A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10404237



Internal ID3494622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9011817..9019541hg38UCSC Ensembl
Innerchr2:9011817..9019541hg38UCSC Ensembl
Outerchr2:9011586..9019770hg38UCSC Ensembl
chr2:9151946..9159670hg19UCSC Ensembl
Innerchr2:9151946..9159670hg19UCSC Ensembl
Outerchr2:9151715..9159899hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg387725
hg197725
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589763
Supporting Variants
SamplesHG03103
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10404237
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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