A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691032



Internal ID15103602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77508475..77510573hg38UCSC Ensembl
Innerchr17:77509475..77509573hg38UCSC Ensembl
Outerchr17:77507475..77511573hg38UCSC Ensembl
chr17:75504557..75506655hg19UCSC Ensembl
Innerchr17:75505557..75505655hg19UCSC Ensembl
Outerchr17:75503557..75507655hg19UCSC Ensembl
chr17:73016152..73018250hg18UCSC Ensembl
Innerchr17:73017152..73017250hg18UCSC Ensembl
Outerchr17:73015152..73019250hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3384063
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691032
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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