A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607785



Internal ID6994716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180582716..180588475hg38UCSC Ensembl
Innerchr5:180582866..180588325hg38UCSC Ensembl
Outerchr5:180582566..180588625hg38UCSC Ensembl
chr5:180009716..180015475hg19UCSC Ensembl
Innerchr5:180009866..180015325hg19UCSC Ensembl
Outerchr5:180009566..180015625hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385760
hg195760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12152958
SamplesNA19079
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607785
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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