A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427597



Internal ID15274553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151953022..151953041hg38UCSC Ensembl
Innerchr5:151953025..151953038hg38UCSC Ensembl
Outerchr5:151953006..151953057hg38UCSC Ensembl
chr5:151332583..151332602hg19UCSC Ensembl
Innerchr5:151332586..151332599hg19UCSC Ensembl
Outerchr5:151332567..151332618hg19UCSC Ensembl
chr5:151312776..151312795hg18UCSC Ensembl
Innerchr5:151312792..151312779hg18UCSC Ensembl
Outerchr5:151312760..151312811hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8927163, essv8927157, essv8927160, essv8927161, essv8927159, essv8927162
SamplesNA18502, NA18498, NA18871, NA18858, NA19108, NA19102
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427597
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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