A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593889



Internal ID6981211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196448968..196452833hg38UCSC Ensembl
Innerchr2:196448968..196452833hg38UCSC Ensembl
Outerchr2:196448860..196453024hg38UCSC Ensembl
chr2:197313692..197317557hg19UCSC Ensembl
Innerchr2:197313692..197317557hg19UCSC Ensembl
Outerchr2:197313584..197317748hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg383866
hg193866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815392
SamplesHG01095
Known GenesHECW2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593889
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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