A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675369



Internal ID9941474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6579042..6579177hg38UCSC Ensembl
chr12:6688208..6688343hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5806826, essv6504030, essv5479998, essv6546547, essv5467588, essv5917617, essv6176046, essv6541416, essv5662563, essv5521810, essv6194699, essv6029457, essv5619501, essv5987252, essv6108114, essv6469587, essv5484898, essv6125417, essv5616334, essv6369413, essv6427449, essv5743339, essv5693393, essv6506681, essv5786092, essv5670547, essv5869680, essv6121629, essv5988300, essv5851846, essv6301695, essv6177821, essv5589603, essv5931737, essv6262815, essv5966588, essv5418006, essv6359797, essv6337991, essv6095838, essv5809571, essv6534261
SamplesNA19394, HG01173, HG01052, HG01374, NA19359, NA18530, NA18633, HG00327, NA19374, NA19373, HG01350, NA19379, HG00346, NA19138, NA19384, NA19404, HG00139, HG00335, HG00309, HG00338, HG00326, HG00323, HG01124, HG00268, NA19391, HG00275, NA19114, HG00250, HG00479, HG01101, HG01334, HG00276, NA19625, HG00285, NA19147, NA18517, HG00278, NA19360, HG00339, HG00125, HG01082, NA18562
Known GenesCHD4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675369
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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