A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677402



Internal ID9596821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113842232..113845549hg38UCSC Ensembl
Outerchr13:113841822..113845969hg38UCSC Ensembl
Innerchr13:114545205..114548522hg19UCSC Ensembl
Outerchr13:114544795..114548942hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg384148
hg194148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5417012, essv5917245, essv6156958, essv5818895, essv5405698, essv6193126, essv6033916, essv6575427, essv5538562, essv5464137, essv6485005, essv6016812, essv5500092, essv5582887, essv5528090, essv5407579, essv6070490, essv6190490, essv5896471, essv5486993, essv5651566, essv5804218, essv6169651, essv6324746, essv6349238, essv6032529, essv5766204, essv6072924, essv6116969, essv6396556, essv5885552, essv6078520, essv5853425, essv6221316, essv5645108, essv5476927, essv6561548, essv5658798, essv6550042, essv5602779, essv5462607, essv6048365, essv5645900, essv5604306, essv6152181, essv6425486, essv5831631, essv5841736, essv5828810, essv5674301, essv5873089, essv5659942, essv6077804, essv6081680, essv5837770, essv6229293, essv5876331, essv5534006, essv5805470, essv5937783, essv6079639, essv6088909, essv6007511, essv5723087, essv6132313, essv6413376, essv6382416, essv5625852, essv6026560, essv6280679, essv6366654, essv5569646, essv5924224, essv5531118, essv5852782, essv5833779, essv6465862
SamplesNA18870, NA19248, NA19152, NA19445, NA19712, NA19904, NA18871, NA19404, NA19437, HG01083, HG00274, HG00186, NA19093, NA19401, NA19311, NA19469, NA18511, NA19455, NA19430, NA19451, HG00375, NA18507, NA20539, NA19257, NA18488, NA19474, NA18505, NA19467, NA19147, NA19438, NA19463, NA19383, NA18934, NA18508, HG01375, NA19390, NA19107, NA19444, NA19396, NA19398, NA19440, NA19256, HG00637, NA19457, NA19247, NA19360, NA19375, NA20126, NA18923, NA18504, NA18487, NA19347, NA19332, NA19707, NA18910, NA19318, NA19391, NA19431, NA19434, NA19446, NA19452, HG00281, NA19327, NA19160, NA18499, NA19371, NA19198, NA19916, NA19346, HG00324, NA19204, NA19473, NA19448, NA19385, HG00278, NA19456, NA19439
Known GenesGAS6, GAS6-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677402
Frequency
Sample Size1151
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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