A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10400366



Internal ID733439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4730035..4739588hg38UCSC Ensembl
Innerchr2:4730091..4739532hg38UCSC Ensembl
Outerchr2:4729979..4739644hg38UCSC Ensembl
chr2:4777625..4787178hg19UCSC Ensembl
Innerchr2:4777681..4787122hg19UCSC Ensembl
Outerchr2:4777569..4787234hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg389554
hg199554
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589689
Supporting Variants
SamplesHG00344
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10400366
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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