A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589142



Internal ID6972078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232921309..232922070hg38UCSC Ensembl
Innerchr1:232921312..232922067hg38UCSC Ensembl
Outerchr1:232921306..232922073hg38UCSC Ensembl
chr1:233057055..233057816hg19UCSC Ensembl
Innerchr1:233057058..233057813hg19UCSC Ensembl
Outerchr1:233057052..233057819hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10324141, essv10324132, essv10324142, essv10324134, essv10324133, essv10324136, essv10324139, essv10324137, essv10324143, essv10324140, essv10324138, essv10324135
SamplesNA19914, HG03449, HG02589, HG03209, NA19200, HG03363, NA19184, HG02537, HG03301, HG03279, NA19185, HG02006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589142
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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