A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691071



Internal ID15103853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83026287..83027085hg38UCSC Ensembl
Innerchr17:83026286..83027086hg38UCSC Ensembl
Outerchr17:83025287..83028085hg38UCSC Ensembl
chr17:80984163..80984961hg19UCSC Ensembl
Innerchr17:80984162..80984962hg19UCSC Ensembl
Outerchr17:80983163..80985961hg19UCSC Ensembl
chr17:78577452..78578250hg18UCSC Ensembl
Innerchr17:78578251..78577451hg18UCSC Ensembl
Outerchr17:78576452..78579250hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435541
Supporting Variants
SamplesNA19240
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691071
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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