A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12150875



Internal ID2152691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179853436..179869950hg38UCSC Ensembl
Innerchr5:179853936..179869450hg38UCSC Ensembl
Outerchr5:179852436..179870950hg38UCSC Ensembl
chr5:179280436..179296950hg19UCSC Ensembl
Innerchr5:179280936..179296450hg19UCSC Ensembl
Outerchr5:179279436..179297950hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3816515
hg1916515
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607755
Supporting Variants
SamplesHG03695
Known GenesC5orf45, TBC1D9B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12150875
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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