A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736735



Internal ID13279986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173735975..173735976hg38UCSC Ensembl
Outerchr5:173735806..173736146hg38UCSC Ensembl
Innerchr5:173162978..173162979hg19UCSC Ensembl
Outerchr5:173162809..173163149hg19UCSC Ensembl
Innerchr5:173095585..173095584hg18UCSC Ensembl
Outerchr5:173095415..173095755hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38341
hg19341
hg18341
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302786
Supporting Variants
SamplesNA11995
Known GenesLOC101928136
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736735
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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