A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607342



Internal ID6994276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159489090..159491143hg38UCSC Ensembl
Innerchr5:159489090..159491143hg38UCSC Ensembl
Outerchr5:159488885..159491370hg38UCSC Ensembl
chr5:158916098..158918151hg19UCSC Ensembl
Innerchr5:158916098..158918151hg19UCSC Ensembl
Outerchr5:158915893..158918378hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382054
hg192054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12113673
SamplesHG03709
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607342
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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