A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609014



Internal ID6995938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52928101..52931588hg38UCSC Ensembl
chr6:52792899..52796386hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg383488
hg193488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12354003, essv12354049, essv12354021, essv12354083, essv12354047, essv12354032, essv12353992, essv12354151, essv12354143, essv12354120, essv12354062, essv12354041, essv12354153, essv12354016, essv12354024, essv12354069, essv12353988, essv12354107, essv12354085, essv12354075, essv12354020, essv12354012, essv12354064, essv12354131, essv12354063, essv12354070, essv12354090, essv12354111, essv12353991, essv12353980, essv12354146, essv12354132, essv12354089, essv12354017, essv12354170, essv12354154, essv12354029, essv12354030, essv12354144, essv12354126, essv12354134, essv12354035, essv12353999, essv12354040, essv12354097, essv12354015, essv12354138, essv12354074, essv12354155, essv12354139, essv12354080, essv12354148, essv12354171, essv12354022, essv12354168, essv12354136, essv12354116, essv12354101, essv12354026, essv12354119, essv12353994, essv12354008, essv12353989, essv12354036, essv12353996, essv12354130, essv12354128, essv12354125, essv12354056, essv12354019, essv12353993, essv12354025, essv12353990, essv12354081, essv12354098, essv12354174, essv12354044, essv12354060, essv12354106, essv12353985, essv12354127, essv12354046, essv12354087, essv12354066, essv12354038, essv12354173, essv12354166, essv12354071, essv12354018, essv12354123, essv12354112, essv12353984, essv12354145, essv12354072, essv12354010, essv12354150, essv12354023, essv12354159, essv12354042, essv12354161, essv12354149, essv12354078, essv12354094, essv12354057, essv12354092, essv12354039, essv12354052, essv12354014, essv12353997, essv12354109, essv12354053, essv12354142, essv12354137, essv12354118, essv12354163, essv12354086, essv12354115, essv12354068, essv12354096, essv12354169, essv12354167, essv12354103, essv12354031, essv12354079, essv12354108, essv12354001, essv12354172, essv12354033, essv12354067, essv12354004, essv12353995, essv12354061, essv12354100, essv12354165, essv12354133, essv12354034, essv12353986, essv12354157, essv12354162, essv12354122, essv12354077, essv12354158, essv12354160, essv12354050, essv12354051, essv12354164, essv12353982, essv12354058, essv12354152, essv12353981, essv12354013, essv12354156, essv12354027, essv12354002, essv12354007, essv12354124, essv12354006, essv12354102, essv12354093, essv12354141, essv12354135, essv12354059, essv12354048, essv12354076, essv12354129, essv12354005, essv12354121, essv12354104, essv12354095, essv12354140, essv12354088, essv12354105, essv12354084, essv12354037, essv12354099, essv12353987, essv12354065, essv12354117, essv12354055, essv12353983, essv12354147, essv12354110, essv12354114, essv12354043, essv12354009, essv12354000, essv12354091, essv12354028, essv12354011, essv12354073, essv12353998, essv12354054, essv12354045, essv12354113, essv12354082
SamplesHG03514, HG02614, HG01986, HG02574, NA20339, HG02944, HG02496, NA19703, HG03378, HG03052, NA18861, HG03163, HG02973, HG02702, NA19704, NA18507, HG03057, HG01326, HG03241, HG03449, HG02798, NA19020, HG03558, NA19350, NA20321, NA19092, HG02323, HG03521, HG03298, HG02476, NA19355, HG01686, HG03100, NA19377, HG03139, HG03172, HG01461, NA19443, NA19314, HG02895, HG03478, HG03199, NA19374, NA19171, NA19379, HG02621, HG02811, HG03385, HG02810, NA20320, HG02485, HG02541, NA19198, HG02756, HG03370, HG02549, NA19457, NA19138, NA20287, NA19904, NA19384, HG02111, HG03460, HG01069, HG02703, HG02561, HG02573, NA20340, HG03045, HG01369, NA19235, HG02642, NA19172, HG02588, NA19159, NA19026, HG02571, HG02946, HG02545, NA20355, HG03267, NA19209, HG03055, HG03583, HG02715, NA18867, HG03369, HG03270, HG03169, HG02009, HG01139, HG03120, HG02820, HG02570, HG02439, NA19210, HG03054, NA19437, NA18934, NA19347, NA18933, HG03291, HG02511, NA19391, NA19913, NA19455, NA19043, NA19236, HG02554, HG03457, HG03428, NA18910, HG03159, HG03081, HG02014, HG01880, HG03136, NA18856, NA19320, HG03571, HG03024, NA19338, HG03391, HG02979, HG02666, NA19452, HG02585, NA19225, HG03354, HG02332, NA19095, HG02586, HG02896, HG02594, HG01988, HG03109, HG01896, NA19035, HG03567, HG03064, HG03028, NA19309, NA19390, NA19321, NA19256, NA19149, NA19147, HG02759, HG03367, NA19019, HG02308, HG02983, HG02611, NA18865, HG02982, HG03127, HG02941, NA19324, NA19310, NA19467, HG02580, NA20281, HG03557, HG03419, HG03084, NA19376, NA19323, NA19328, HG02974, NA19472, HG03025, HG03049, NA20334, HG03279, HG02938, HG02053, NA19474, HG02107, NA19093, HG03063, NA19185, HG03351, HG02679, NA19096, NA18876, HG03470, HG03401, HG02051, HG02808, HG03129, HG03439, HG01578, NA19346, HG03166, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609014
Frequency
Sample Size2504
Observed Gain0
Observed Loss195
Observed Complex0
Frequencyn/a


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