A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667964



Internal ID9934069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77175055..77176543hg38UCSC Ensembl
chr7:76804372..76805860hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381489
hg191489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6425627, essv6411311, essv6468059, essv6154056, essv5571897, essv5845338, essv6339125, essv6332933, essv5557827, essv6004515, essv6217010, essv6461218, essv6448944, essv6371305, essv5708906, essv5594609, essv6500957, essv6490063, essv6193524, essv6117956, essv5451669, essv5716887, essv5987807, essv6086471, essv5450090, essv6534063, essv6499915, essv6202782, essv6056246, essv6094958, essv6239844, essv5892465, essv5435710, essv5712227, essv6250795, essv5732440, essv6081723, essv6407747, essv6496483, essv5959019, essv6246075, essv5934583, essv5922696, essv5981099, essv5943694, essv6525132, essv6344879, essv6399630, essv5548647, essv6581347, essv6585553, essv5981747, essv6565340, essv5491144, essv5825618, essv6079323, essv5949297, essv5451081, essv6143250, essv6123339, essv6543385, essv5460705, essv5983088, essv5905360, essv5772582, essv5694868, essv5844311, essv5859631, essv5876019, essv5604485, essv5785109, essv5484797, essv5729597, essv6384627, essv6555339, essv6134362, essv6194081, essv5432434, essv6186865, essv5663490, essv6290351, essv6114461, essv6251595, essv6372326, essv5935168, essv6070269, essv5771767, essv6320008, essv6200353, essv5435391, essv6517094, essv5401624, essv5579346, essv5912543, essv6578119, essv6377711, essv5950456, essv5451469, essv6410181, essv5480897, essv5880930
SamplesHG00650, HG00442, HG00671, NA18861, HG00524, NA19399, NA18999, NA18603, NA18486, NA18606, HG00449, HG00654, NA19190, NA19067, NA18602, NA18627, HG00663, NA19381, NA19005, NA18550, HG00501, NA19382, HG00702, NA18619, NA18547, NA18582, NA18611, NA19404, HG00512, NA18874, NA19235, NA18617, NA19002, NA18985, HG00530, HG00419, NA18539, NA18544, NA18605, NA19247, NA19437, NA19462, NA18933, HG00657, NA19236, HG00556, HG00533, NA18579, NA18910, NA18534, HG00708, HG00635, HG01390, NA19114, NA19000, NA19449, NA19084, NA18626, NA18912, NA18553, NA19338, HG00152, NA19469, NA18536, NA18570, NA18858, NA18593, NA18608, NA18535, NA18543, HG00625, NA19434, NA18628, NA18950, HG00580, NA19435, NA19380, NA19334, NA19439, HG00662, HG00418, NA18615, HG00707, HG00614, HG00578, NA19472, NA18987, HG00656, NA18873, HG00698, NA19900, HG00472, NA18989, NA19463, NA18623, NA19063, NA19065, NA18549, NA19346, HG00581, NA18965
Known GenesCCDC146
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667964
Frequency
Sample Size1151
Observed Gain0
Observed Loss101
Observed Complex0
Frequencyn/a


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