A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605980



Internal ID6992917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:100499413..100529898hg38UCSC Ensembl
Innerchr5:100499440..100529871hg38UCSC Ensembl
Outerchr5:100499386..100529925hg38UCSC Ensembl
chr5:99835117..99865602hg19UCSC Ensembl
Innerchr5:99835144..99865575hg19UCSC Ensembl
Outerchr5:99835090..99865629hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3830486
hg1930486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11997625
SamplesHG03057
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605980
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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