A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690978



Internal ID13706854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64899272..64904170hg38UCSC Ensembl
Innerchr17:64900272..64903170hg38UCSC Ensembl
Outerchr17:64898272..64905170hg38UCSC Ensembl
chr17:62895390..62900288hg19UCSC Ensembl
Innerchr17:62896390..62899288hg19UCSC Ensembl
Outerchr17:62894390..62901288hg19UCSC Ensembl
chr17:60325852..60330750hg18UCSC Ensembl
Innerchr17:60326852..60329750hg18UCSC Ensembl
Outerchr17:60324852..60331750hg18UCSC 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 Variantsesv3448945
Supporting Variants
SamplesNA12891
Known GenesLRRC37A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690978
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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