A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585513



Internal ID6625831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24752889..24755132hg38UCSC Ensembl
Innerchr1:24752917..24755105hg38UCSC Ensembl
Outerchr1:24752862..24755160hg38UCSC Ensembl
chr1:25079380..25081623hg19UCSC Ensembl
Innerchr1:25079408..25081596hg19UCSC Ensembl
Outerchr1:25079353..25081651hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382244
hg192244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9892047, essv9892048, essv9892049
SamplesNA20903, NA20351, HG03846
Known GenesCLIC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585513
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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