A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597843



Internal ID672381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101685848..101690561hg38UCSC Ensembl
Innerchr2:101685848..101690561hg38UCSC Ensembl
Outerchr2:101685627..101690803hg38UCSC Ensembl
chr2:102302310..102307023hg19UCSC Ensembl
Innerchr2:102302310..102307023hg19UCSC Ensembl
Outerchr2:102302089..102307265hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg384714
hg194714
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591774
Supporting Variants
SamplesHG00313
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597843
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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