A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8927157



Internal ID14841489
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 StatusS
Merged Variantsesv3427597
Supporting Variants
SamplesNA19102
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8927157
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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