A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605024



Internal ID6992052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50462277..50466458hg38UCSC Ensembl
Innerchr5:50462330..50466406hg38UCSC Ensembl
Outerchr5:50462225..50466511hg38UCSC Ensembl
chr5:49758111..49762292hg19UCSC Ensembl
Innerchr5:49758164..49762240hg19UCSC Ensembl
Outerchr5:49758059..49762345hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg384182
hg194182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11899954
SamplesNA20543
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605024
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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