A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10472130



Internal ID3017748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40597498..40636900hg38UCSC Ensembl
Innerchr2:40597498..40636900hg38UCSC Ensembl
Outerchr2:40596998..40637400hg38UCSC Ensembl
chr2:40824638..40864040hg19UCSC Ensembl
Innerchr2:40824638..40864040hg19UCSC Ensembl
Outerchr2:40824138..40864540hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3839403
hg1939403
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590464
Supporting Variants
SamplesHG02657
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10472130
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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