A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639395



Internal ID6679489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83774905..83775471hg38UCSC Ensembl
Innerchr16:83774905..83775471hg38UCSC Ensembl
Outerchr16:83774543..83775853hg38UCSC Ensembl
chr16:83808510..83809076hg19UCSC Ensembl
Innerchr16:83808510..83809076hg19UCSC Ensembl
Outerchr16:83808148..83809458hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38567
hg19567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15545390, essv15545397, essv15545367, essv15545451, essv15545431, essv15545432, essv15545430, essv15545435, essv15545441, essv15545400, essv15545368, essv15545410, essv15545372, essv15545415, essv15545399, essv15545413, essv15545380, essv15545357, essv15545409, essv15545417, essv15545381, essv15545442, essv15545436, essv15545365, essv15545439, essv15545402, essv15545395, essv15545433, essv15545378, essv15545370, essv15545405, essv15545407, essv15545437, essv15545408, essv15545374, essv15545425, essv15545424, essv15545396, essv15545422, essv15545361, essv15545450, essv15545446, essv15545403, essv15545393, essv15545384, essv15545369, essv15545448, essv15545423, essv15545359, essv15545391, essv15545366, essv15545447, essv15545398, essv15545420, essv15545376, essv15545358, essv15545386, essv15545452, essv15545412, essv15545443, essv15545373, essv15545428, essv15545421, essv15545444, essv15545426, essv15545388, essv15545392, essv15545414, essv15545434, essv15545406, essv15545429, essv15545375, essv15545383, essv15545440, essv15545377, essv15545416, essv15545401, essv15545382, essv15545427, essv15545387, essv15545404, essv15545394, essv15545419, essv15545364, essv15545379, essv15545389, essv15545371, essv15545411, essv15545438, essv15545449, essv15545385, essv15545445, essv15545360, essv15545362, essv15545363, essv15545418
SamplesNA20874, HG01965, HG02002, HG01443, NA18647, HG00559, HG01188, NA18599, NA19795, HG02382, NA18530, NA18606, HG02384, HG01924, HG01571, HG02312, NA19005, NA18944, HG01953, HG02087, HG01277, HG02266, NA18942, HG00736, NA19771, NA19782, HG01982, HG00451, HG01069, NA19720, HG02003, NA18748, HG01892, NA19725, HG02260, HG01851, HG00464, HG01942, NA19007, NA18614, NA18951, HG00560, NA18747, HG00653, HG02397, HG02253, NA19717, HG01979, HG01845, NA19081, NA19658, NA18572, HG02102, HG01948, HG00692, HG00651, NA20299, NA19774, NA19001, NA18532, NA19740, HG02081, NA19761, HG00463, HG00864, HG01572, NA19012, NA18646, HG03934, HG01992, HG01954, NA19747, NA19090, HG00623, HG01977, HG01137, NA19741, HG01108, NA18610, HG03019, HG01862, NA19078, HG00513, HG02147, HG01935, HG01868, HG02079, NA19716, NA19726, NA18972, NA18552, HG02348, NA18957, HG02425, NA18624, NA19074
Known GenesCDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639395
Frequency
Sample Size2504
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer