A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740867



Internal ID15084442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29690770..29690770hg38UCSC Ensembl
Innerchr17:29690769..29690771hg38UCSC Ensembl
Outerchr17:29690720..29690820hg38UCSC Ensembl
chr17:28017788..28017788hg19UCSC Ensembl
Innerchr17:28017787..28017789hg19UCSC Ensembl
Outerchr17:28017738..28017838hg19UCSC Ensembl
chr17:25041914..25041914hg18UCSC Ensembl
Innerchr17:25041915..25041913hg18UCSC Ensembl
Outerchr17:25041864..25041964hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381651
hg191651
hg181651
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3332072
Supporting Variants
SamplesNA19240
Known GenesSSH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740867
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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