A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11953042



Internal ID1008166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79656268..79664207hg38UCSC Ensembl
Innerchr5:79656768..79663707hg38UCSC Ensembl
Outerchr5:79655268..79665207hg38UCSC Ensembl
chr5:78952091..78960030hg19UCSC Ensembl
Innerchr5:78952591..78959530hg19UCSC Ensembl
Outerchr5:78951091..78961030hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg387940
hg197940
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605543
Supporting Variants
SamplesHG00629
Known GenesPAPD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11953042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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