A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593505



Internal ID6980829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179423145..179436400hg38UCSC Ensembl
Innerchr2:179423146..179436400hg38UCSC Ensembl
Outerchr2:179423145..179436401hg38UCSC Ensembl
chr2:180287872..180301127hg19UCSC Ensembl
Innerchr2:180287873..180301127hg19UCSC Ensembl
Outerchr2:180287872..180301128hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3813256
hg1913256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10780797, essv10780798, essv10780794, essv10780793, essv10780796, essv10780795
SamplesHG02058, NA18544, HG00708, HG01878, HG00473, HG01798
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593505
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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