A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11494764



Internal ID4970471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71651804..71654740hg38UCSC Ensembl
Innerchr4:71651804..71654740hg38UCSC Ensembl
Outerchr4:71651540..71655001hg38UCSC Ensembl
chr4:72517521..72520457hg19UCSC Ensembl
Innerchr4:72517521..72520457hg19UCSC Ensembl
Outerchr4:72517257..72520718hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382937
hg192937
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600955
Supporting Variants
SamplesNA12873
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11494764
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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