A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676061



Internal ID9942166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:179423224..179436345hg38UCSC Ensembl
Outerchr2:179423067..179436498hg38UCSC Ensembl
Innerchr2:180287951..180301072hg19UCSC Ensembl
Outerchr2:180287794..180301225hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3813432
hg1913432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5808374, essv5766686, essv6543780
SamplesNA18544, HG00708, HG00473
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676061
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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