A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607648



Internal ID6994580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175356094..175357617hg38UCSC Ensembl
Innerchr5:175356103..175357609hg38UCSC Ensembl
Outerchr5:175356086..175357626hg38UCSC Ensembl
chr5:174783097..174784620hg19UCSC Ensembl
Innerchr5:174783106..174784612hg19UCSC Ensembl
Outerchr5:174783089..174784629hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381524
hg191524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12137133
SamplesHG01935
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607648
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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