A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607705



Internal ID6994637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178062026..178064464hg38UCSC Ensembl
Innerchr5:178062076..178064414hg38UCSC Ensembl
Outerchr5:178061976..178064514hg38UCSC Ensembl
chr5:177489027..177491465hg19UCSC Ensembl
Innerchr5:177489077..177491415hg19UCSC Ensembl
Outerchr5:177488977..177491515hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382439
hg192439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12147822, essv12147820, essv12147821
SamplesNA20589, NA20586, HG02236
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607705
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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