A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665819



Internal ID9931924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44710985..44711585hg38UCSC Ensembl
chr6:44678722..44679322hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6440139, essv5543675, essv6429915, essv5517556, essv6326483, essv5918214, essv5688182, essv6064248, essv6555827, essv6352411, essv5704006, essv5783767, essv6370080, essv5896311, essv6018714, essv5788573, essv6132771, essv5555234
SamplesHG01060, HG01441, NA12717, NA12286, HG00249, HG00315, HG01070, NA20586, HG00330, NA07347, HG00369, HG00335, HG00182, NA19707, NA19750, HG01204, NA19436, NA20530
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665819
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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