A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585176



Internal ID6972700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9519060..9522361hg38UCSC Ensembl
Innerchr1:9519113..9522308hg38UCSC Ensembl
Outerchr1:9519007..9522414hg38UCSC Ensembl
chr1:9579119..9582420hg19UCSC Ensembl
Innerchr1:9579172..9582367hg19UCSC Ensembl
Outerchr1:9579066..9582473hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383302
hg193302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5e214
Supporting Variantsessv9850261, essv9850264, essv9850263, essv9850262
SamplesNA20814, NA12872, HG00259, HG01464
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585176
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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