A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11955715



Internal ID3740317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80416473..80457434hg38UCSC Ensembl
Innerchr5:80416473..80457434hg38UCSC Ensembl
Outerchr5:80415973..80457934hg38UCSC Ensembl
chr5:79712292..79753253hg19UCSC Ensembl
Innerchr5:79712292..79753253hg19UCSC Ensembl
Outerchr5:79711792..79753753hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3840962
hg1940962
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605574
Supporting Variants
SamplesHG03372
Known GenesZFYVE16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11955715
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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