A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690979



Internal ID13662206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64899372..64904270hg38UCSC Ensembl
Innerchr17:64900372..64903270hg38UCSC Ensembl
Outerchr17:64898372..64905270hg38UCSC Ensembl
chr17:62895490..62900388hg19UCSC Ensembl
Innerchr17:62896490..62899388hg19UCSC Ensembl
Outerchr17:62894490..62901388hg19UCSC Ensembl
chr17:60325952..60330850hg18UCSC Ensembl
Innerchr17:60326952..60329850hg18UCSC Ensembl
Outerchr17:60324952..60331850hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg384899
hg194899
hg184899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3411544
Supporting Variants
SamplesNA12878
Known GenesLRRC37A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690979
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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