A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593524



Internal ID6980848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180363242..180367584hg38UCSC Ensembl
Innerchr2:180363292..180367534hg38UCSC Ensembl
Outerchr2:180363162..180367664hg38UCSC Ensembl
chr2:181227969..181232311hg19UCSC Ensembl
Innerchr2:181228019..181232261hg19UCSC Ensembl
Outerchr2:181227889..181232391hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg384343
hg194343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10784690, essv10784689
SamplesHG01593, HG04189
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593524
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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