A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603910



Internal ID6990941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5869483..5870556hg38UCSC Ensembl
Innerchr5:5869483..5870556hg38UCSC Ensembl
Outerchr5:5869395..5870647hg38UCSC Ensembl
chr5:5869596..5870669hg19UCSC Ensembl
Innerchr5:5869596..5870669hg19UCSC Ensembl
Outerchr5:5869508..5870760hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg381074
hg191074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11799947, essv11799946, essv11799945, essv11799949, essv11799951, essv11799948, essv11799950
SamplesHG01971, NA19792, HG01281, HG01771, NA20538, HG01783, HG01756
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603910
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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