A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651973



Internal ID15100775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78351191..78351376hg38UCSC Ensembl
Innerchr17:78351191..78351376hg38UCSC Ensembl
Outerchr17:78351046..78352227hg38UCSC Ensembl
chr17:76347272..76347457hg19UCSC Ensembl
Innerchr17:76347272..76347457hg19UCSC Ensembl
Outerchr17:76347127..76348308hg19UCSC Ensembl
chr17:73858867..73859052hg18UCSC Ensembl
Innerchr17:73858867..73859052hg18UCSC Ensembl
Outerchr17:73858722..73859903hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38186
hg19186
hg18186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3438021
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651973
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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