A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586971



Internal ID6974398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101382553..101392961hg38UCSC Ensembl
Innerchr1:101382703..101392811hg38UCSC Ensembl
Outerchr1:101382403..101393111hg38UCSC Ensembl
chr1:101848109..101858517hg19UCSC Ensembl
Innerchr1:101848259..101858367hg19UCSC Ensembl
Outerchr1:101847959..101858667hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3810409
hg1910409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10033227, essv10033228
SamplesNA19005, NA18941
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586971
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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