A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12132596



Internal ID5431825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170932374..170937583hg38UCSC Ensembl
Innerchr5:170932424..170937533hg38UCSC Ensembl
Outerchr5:170932280..170937677hg38UCSC Ensembl
chr5:170359378..170364587hg19UCSC Ensembl
Innerchr5:170359428..170364537hg19UCSC Ensembl
Outerchr5:170359284..170364681hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg385210
hg195210
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607574
Supporting Variants
SamplesNA18956
Known GenesRANBP17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12132596
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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