A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10438731



Internal ID1692093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29508308..29514324hg38UCSC Ensembl
Innerchr2:29508308..29514324hg38UCSC Ensembl
Outerchr2:29508059..29514554hg38UCSC Ensembl
chr2:29731174..29737190hg19UCSC Ensembl
Innerchr2:29731174..29737190hg19UCSC Ensembl
Outerchr2:29730925..29737420hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590182
Supporting Variants
SamplesHG01571
Known GenesALK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10438731
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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