A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668105



Internal ID9934210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:127251562..127253668hg38UCSC Ensembl
Outerchr7:127251191..127254038hg38UCSC Ensembl
Innerchr7:126891616..126893722hg19UCSC Ensembl
Outerchr7:126891245..126894092hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5482452, essv5744259, essv6288507, essv5429535, essv6032952, essv6386852, essv5890804, essv6165934, essv6225645, essv6287448, essv6527554, essv6480578, essv5779078, essv5723698, essv6024193, essv5406546, essv6075533, essv6379009, essv6255323, essv5938811, essv6227896, essv5484519, essv6418703, essv6158477, essv6387714, essv6500596, essv5411458, essv5891580, essv5931773, essv5539120, essv5854410, essv6543963, essv5489828, essv5551486, essv6154650, essv6064987, essv5678212, essv6021725, essv5583045, essv6469438, essv6215621, essv5887657, essv6074047, essv6358521, essv6367248, essv6143558, essv6256247, essv6053537, essv6515219, essv6340092, essv6462547, essv5724226, essv5686216, essv6462315, essv6310056, essv6328636, essv6332914, essv6080600, essv5659218, essv6335251, essv6152266, essv5574724, essv5571000, essv5883397, essv6125783, essv5961884, essv5863025, essv6196602
SamplesHG00403, HG00542, HG00536, HG00608, HG00671, HG00524, HG00449, HG00693, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00590, HG00512, HG00683, HG00534, HG00422, HG00427, HG00530, HG00419, HG00543, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00701, HG00657, HG00475, HG00436, HG00584, HG00533, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00611, HG00476, HG00625, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00513, HG00478, HG00421, HG00656, HG00595, HG00437, HG00581
Known GenesGRM8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668105
Frequency
Sample Size1151
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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