A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593016



Internal ID6980340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:155263625..155269747hg38UCSC Ensembl
Innerchr2:155263634..155269738hg38UCSC Ensembl
Outerchr2:155263616..155269756hg38UCSC Ensembl
chr2:156120137..156126259hg19UCSC Ensembl
Innerchr2:156120146..156126250hg19UCSC Ensembl
Outerchr2:156120128..156126268hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg386123
hg196123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10720071, essv10720070, essv10720069
SamplesHG03808, HG03829, HG01992
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593016
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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