A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585396



Internal ID6625715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19330138..19334718hg38UCSC Ensembl
Innerchr1:19330138..19334718hg38UCSC Ensembl
Outerchr1:19329856..19335015hg38UCSC Ensembl
chr1:19656632..19661212hg19UCSC Ensembl
Innerchr1:19656632..19661212hg19UCSC Ensembl
Outerchr1:19656350..19661509hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg384581
hg194581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9879211, essv9879212, essv9879213
SamplesHG01359, HG01366, NA19758
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585396
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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