A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11662870



Internal ID2619022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:160442205..160549544hg38UCSC Ensembl
Innerchr4:160442205..160549544hg38UCSC Ensembl
Outerchr4:160441705..160550044hg38UCSC Ensembl
chr4:161363357..161470696hg19UCSC Ensembl
Innerchr4:161363357..161470696hg19UCSC Ensembl
Outerchr4:161362857..161471196hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38107340
hg19107340
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602872
Supporting Variants
SamplesHG02317
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11662870
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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