A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677602



Internal ID9597021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:40695366..40697022hg38UCSC Ensembl
Outerchr11:40694995..40697392hg38UCSC Ensembl
Innerchr11:40716916..40718572hg19UCSC Ensembl
Outerchr11:40716545..40718942hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg382398
hg192398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6540973, essv5945516, essv6014199, essv6267057, essv5437322, essv6351487, essv5908874, essv6455477, essv6046876, essv5987985, essv5941735, essv5510851, essv5494197, essv5443927, essv6091958, essv5985923, essv6537967, essv5472436, essv5466967, essv6431512, essv6428141, essv6278673, essv6051942, essv6145629, essv5767643, essv5944677, essv6352128, essv5589043, essv6025041, essv6146178, essv5998409, essv6598409, essv5915702, essv6388598, essv6216272, essv5700855, essv6240797, essv6204533, essv6587002, essv6381186, essv6242708, essv6054753, essv5433857, essv6036340, essv5995766, essv6259030, essv6526825, essv5886783, essv6010955
SamplesHG00650, HG00542, HG00442, HG00671, HG00699, HG00449, HG00654, HG00693, HG00589, HG00501, HG00702, HG00689, HG00537, HG00590, HG00512, HG00534, HG00422, HG00705, HG00419, HG00464, HG00596, HG00557, HG00653, HG00701, HG00657, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00651, HG00690, HG00613, HG00704, HG00463, HG00607, HG00662, HG00620, HG00672, HG00614, HG00513, HG00421, HG00656, HG00698, HG00581
Known GenesLRRC4C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677602
Frequency
Sample Size1151
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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