A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12095956



Internal ID6225376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150333215..150348065hg38UCSC Ensembl
Innerchr5:150333222..150348058hg38UCSC Ensembl
Outerchr5:150333208..150348072hg38UCSC Ensembl
chr5:149712778..149727628hg19UCSC Ensembl
Innerchr5:149712785..149727621hg19UCSC Ensembl
Outerchr5:149712771..149727635hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3814851
hg1914851
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607159
Supporting Variants
SamplesNA19752
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12095956
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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