A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10784689



Internal ID1709743
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593524
Supporting Variants
SamplesHG01593
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10784689
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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