A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606717



Internal ID6993652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127980255..127982815hg38UCSC Ensembl
Innerchr5:127980255..127982815hg38UCSC Ensembl
Outerchr5:127980074..127982883hg38UCSC Ensembl
chr5:127315947..127318507hg19UCSC Ensembl
Innerchr5:127315947..127318507hg19UCSC Ensembl
Outerchr5:127315766..127318575hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg382561
hg192561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12057771, essv12057780, essv12057777, essv12057773, essv12057772, essv12057774, essv12057779, essv12057778, essv12057776, essv12057775
SamplesHG02481, NA19314, NA19404, HG03460, HG03268, HG02322, NA19338, NA19331, HG03469, HG02851
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606717
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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