A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11579204



Internal ID4902338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:117815332..117817222hg38UCSC Ensembl
Innerchr4:117815381..117817174hg38UCSC Ensembl
Outerchr4:117815284..117817271hg38UCSC Ensembl
chr4:118736487..118738377hg19UCSC Ensembl
Innerchr4:118736536..118738329hg19UCSC Ensembl
Outerchr4:118736439..118738426hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg381891
hg191891
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601928
Supporting Variants
SamplesNA12716
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11579204
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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