A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593608



Internal ID6980931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:184079963..184226434hg38UCSC Ensembl
Innerchr2:184079963..184226434hg38UCSC Ensembl
Outerchr2:184079463..184226934hg38UCSC Ensembl
chr2:184944690..185091161hg19UCSC Ensembl
Innerchr2:184944690..185091161hg19UCSC Ensembl
Outerchr2:184944190..185091661hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38146472
hg19146472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10789337
SamplesHG00266
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593608
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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