A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647540



Internal ID6687595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29576049..29577283hg38UCSC Ensembl
Innerchr22:29576199..29577133hg38UCSC Ensembl
Outerchr22:29575899..29577433hg38UCSC Ensembl
chr22:29972038..29973272hg19UCSC Ensembl
Innerchr22:29972188..29973122hg19UCSC Ensembl
Outerchr22:29971888..29973422hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16401119, essv16401227, essv16401144, essv16401212, essv16401236, essv16401171, essv16401150, essv16401163, essv16401159, essv16401185, essv16401242, essv16401186, essv16401168, essv16401147, essv16401169, essv16401183, essv16401146, essv16401233, essv16401142, essv16401187, essv16401204, essv16401198, essv16401115, essv16401116, essv16401148, essv16401133, essv16401139, essv16401196, essv16401192, essv16401234, essv16401164, essv16401217, essv16401214, essv16401235, essv16401162, essv16401112, essv16401121, essv16401158, essv16401120, essv16401247, essv16401131, essv16401132, essv16401203, essv16401213, essv16401172, essv16401155, essv16401140, essv16401207, essv16401118, essv16401182, essv16401124, essv16401177, essv16401208, essv16401161, essv16401154, essv16401128, essv16401135, essv16401199, essv16401175, essv16401125, essv16401137, essv16401127, essv16401246, essv16401201, essv16401229, essv16401181, essv16401151, essv16401211, essv16401216, essv16401220, essv16401167, essv16401130, essv16401190, essv16401126, essv16401188, essv16401166, essv16401243, essv16401174, essv16401230, essv16401221, essv16401240, essv16401219, essv16401205, essv16401145, essv16401193, essv16401173, essv16401136, essv16401223, essv16401245, essv16401180, essv16401170, essv16401165, essv16401157, essv16401206, essv16401191, essv16401156, essv16401141, essv16401200, essv16401160, essv16401129, essv16401152, essv16401241, essv16401138, essv16401238, essv16401189, essv16401122, essv16401153, essv16401194, essv16401195, essv16401178, essv16401179, essv16401239, essv16401114, essv16401231, essv16401215, essv16401210, essv16401202, essv16401113, essv16401232, essv16401222, essv16401226, essv16401224, essv16401143, essv16401176, essv16401244, essv16401237, essv16401218, essv16401117, essv16401184, essv16401134, essv16401228, essv16401225, essv16401149, essv16401209, essv16401123, essv16401197, essv16401248
SamplesHG02666, NA20281, HG02890, NA19146, NA19913, HG02107, HG02882, HG02810, HG02330, HG02621, HG02970, NA19222, HG02546, HG02816, HG03478, HG01444, HG03112, NA19093, HG02549, NA20346, HG02318, NA20299, HG02979, HG03189, HG03057, HG03452, HG01325, NA19923, HG02014, HG03046, HG02885, HG02887, NA19449, HG02944, HG03048, HG03458, NA19144, NA19210, HG01708, NA19017, HG03401, NA19378, HG02817, HG03538, NA18488, NA19236, HG03268, HG02433, NA19043, HG02308, NA19117, HG02836, HG02982, NA20412, HG03558, HG02053, HG02588, NA19428, HG02981, HG03470, HG02634, NA20356, HG02009, HG01122, HG02772, HG02703, HG03241, NA19351, HG03052, HG02763, HG03024, HG03100, HG03539, HG03027, HG02595, NA19190, HG03063, HG02888, HG03225, HG02840, HG02442, HG02325, HG02878, HG03190, HG02449, HG02054, HG03040, HG03391, HG01989, HG02541, NA19024, NA20348, NA18923, HG02922, HG03547, HG02337, HG02623, NA19098, HG02501, NA18504, NA19704, HG02852, HG02479, NA19307, HG02570, HG02947, NA19138, HG01405, HG02645, NA20332, NA19394, HG03045, HG02629, HG02953, HG03267, NA19099, HG01390, HG03123, NA18864, HG02837, NA19225, HG02702, NA18917, HG02679, NA19118, HG02445, HG03449, HG01985, NA18853, HG02555, NA18908, HG03517, NA19448, NA19468, HG02095, HG02820, NA19439
Known GenesNIPSNAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647540
Frequency
Sample Size2504
Observed Gain0
Observed Loss137
Observed Complex0
Frequencyn/a


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