A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641214



Internal ID7027988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73220500..73221540hg38UCSC Ensembl
Innerchr17:73220500..73221540hg38UCSC Ensembl
Outerchr17:73220275..73221919hg38UCSC Ensembl
chr17:71216639..71217679hg19UCSC Ensembl
Innerchr17:71216639..71217679hg19UCSC Ensembl
Outerchr17:71216414..71218058hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15736041, essv15736063, essv15736068, essv15736016, essv15735977, essv15736012, essv15736052, essv15736046, essv15736069, essv15736067, essv15736033, essv15736066, essv15736009, essv15736034, essv15735993, essv15736062, essv15736020, essv15735991, essv15735980, essv15736019, essv15736000, essv15735982, essv15735988, essv15735978, essv15736007, essv15736044, essv15736014, essv15735979, essv15736021, essv15736060, essv15736059, essv15735990, essv15736040, essv15736072, essv15736045, essv15736011, essv15736010, essv15736027, essv15736006, essv15735997, essv15736035, essv15736022, essv15736025, essv15736002, essv15736042, essv15736017, essv15736026, essv15735994, essv15736054, essv15735973, essv15736003, essv15736030, essv15736018, essv15736037, essv15735976, essv15736049, essv15735967, essv15736028, essv15735984, essv15736058, essv15735987, essv15736038, essv15736047, essv15736050, essv15735989, essv15736074, essv15735971, essv15735985, essv15735983, essv15736023, essv15735968, essv15735975, essv15736064, essv15735966, essv15736055, essv15736070, essv15736024, essv15736075, essv15736061, essv15736032, essv15736029, essv15735995, essv15735999, essv15736057, essv15735974, essv15736073, essv15736065, essv15735996, essv15735986, essv15736071, essv15736043, essv15736051, essv15735981, essv15735992, essv15736048, essv15736008, essv15736036, essv15736056, essv15736031, essv15735998, essv15735972, essv15735970, essv15736013, essv15736015, essv15736005, essv15736001, essv15735969, essv15736004, essv15736053, essv15736039
SamplesHG03096, NA19701, NA19028, NA19141, HG03366, HG03548, NA19204, NA19914, HG03111, NA18507, HG02318, HG03241, HG03449, HG02836, NA19020, HG03558, HG02012, HG03130, NA20321, HG03521, NA20332, HG03139, HG03172, NA18870, HG03572, NA19171, NA19379, HG03086, HG02621, NA18489, NA20320, HG03485, HG03370, NA18916, HG02645, HG03246, HG03224, HG02505, NA19922, NA19923, NA18868, NA19372, HG01281, HG03195, NA19471, HG03352, NA19036, HG02571, HG02502, HG02545, HG03055, NA18908, HG03394, NA18867, NA19200, HG02716, HG03511, HG01247, NA19175, NA19152, HG00732, HG01882, NA19455, HG01088, NA19236, NA19982, NA18915, HG01989, HG03027, HG02537, HG01889, HG03301, HG02429, NA18499, HG03397, HG03388, HG02884, HG02283, NA19257, NA19436, NA19035, HG02557, NA18909, NA18517, HG03367, NA19712, NA19019, HG02983, HG03458, HG02982, HG03469, HG02558, NA20357, NA19818, NA19328, HG02970, HG01556, HG03025, HG02053, HG03351, NA19096, HG03538, HG02051, NA18488, HG03072, HG03129, HG03439, NA19346, NA19431, HG03265
Known GenesFAM104A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641214
Frequency
Sample Size2504
Observed Gain0
Observed Loss110
Observed Complex0
Frequencyn/a


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