A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607755



Internal ID6647994
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12150874, essv12150875
SamplesHG00182, HG03695
Known GenesC5orf45, TBC1D9B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607755
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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