A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657686



Internal ID9923791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30441500..30445506hg38UCSC Ensembl
Outerchr7:30441129..30445876hg38UCSC Ensembl
Innerchr7:30481116..30485122hg19UCSC Ensembl
Outerchr7:30480745..30485492hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6523397, essv5549172, essv6028693, essv5608638, essv6332177, essv5695383, essv5905067, essv6594362, essv5738140, essv5699035, essv6399423, essv6379722, essv5759522, essv6504657, essv5572297, essv6355722, essv5965568, essv5571513, essv6454810, essv6465181, essv6142215, essv5916523, essv5864943, essv5642146, essv5610826, essv5752016, essv6388606, essv6209006, essv5866589, essv5535168, essv5888381, essv6462725, essv6592016, essv5965526, essv5690931, essv5709898, essv5678480, essv5396572, essv6472505, essv5678150, essv6595224, essv5569099, essv6375971, essv6121313, essv6504535, essv6154148, essv5837758, essv6065737, essv5847338, essv6030431, essv5756088, essv6020466, essv5917297, essv5413542, essv6189428, essv5957857, essv5473727, essv6139487, essv5409163, essv6582608, essv6264319, essv5575046, essv6271654, essv6006265, essv5899995, essv5703870, essv5641593, essv6260028, essv5683254, essv6246007
SamplesHG00650, HG00542, HG00442, HG00536, HG00671, HG00524, HG00699, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00537, HG00590, HG00512, HG00683, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00443, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00651, HG00690, HG00531, HG00479, HG00684, HG00525, HG00704, HG00463, HG00476, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00478, HG00421, HG00656, HG00698, HG00472, HG00437, HG00581
Known GenesNOD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657686
Frequency
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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