A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690955



Internal ID15027610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60002509..60004707hg38UCSC Ensembl
Innerchr17:60003509..60003707hg38UCSC Ensembl
Outerchr17:60001509..60005707hg38UCSC Ensembl
chr17:58079870..58082068hg19UCSC Ensembl
Innerchr17:58080870..58081068hg19UCSC Ensembl
Outerchr17:58078870..58083068hg19UCSC Ensembl
chr17:55434652..55436850hg18UCSC Ensembl
Innerchr17:55435652..55435850hg18UCSC Ensembl
Outerchr17:55433652..55437850hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3389314
Supporting Variants
SamplesNA19238
Known GenesTBC1D3P1-DHX40P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690955
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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