A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12129099



Internal ID2130915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170667228..170669725hg38UCSC Ensembl
Innerchr5:170667278..170669676hg38UCSC Ensembl
Outerchr5:170667179..170669775hg38UCSC Ensembl
chr5:170094232..170096729hg19UCSC Ensembl
Innerchr5:170094282..170096680hg19UCSC Ensembl
Outerchr5:170094183..170096779hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382498
hg192498
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607567
Supporting Variants
SamplesHG00689
Known GenesKCNIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12129099
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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