A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593752



Internal ID6981075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190276683..190280614hg38UCSC Ensembl
Innerchr2:190276693..190280604hg38UCSC Ensembl
Outerchr2:190276673..190280624hg38UCSC Ensembl
chr2:191141409..191145340hg19UCSC Ensembl
Innerchr2:191141419..191145330hg19UCSC Ensembl
Outerchr2:191141399..191145350hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg383932
hg193932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10798748
SamplesHG01130
Known GenesHIBCH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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