A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691079



Internal ID15055310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:940762..943060hg38UCSC Ensembl
Innerchr17:941762..942060hg38UCSC Ensembl
Outerchr17:939762..944060hg38UCSC Ensembl
chr17:844002..846300hg19UCSC Ensembl
Innerchr17:845002..845300hg19UCSC Ensembl
Outerchr17:843002..847300hg19UCSC Ensembl
chr17:790752..793050hg18UCSC Ensembl
Innerchr17:791752..792050hg18UCSC Ensembl
Outerchr17:789752..794050hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3428547
Supporting Variants
SamplesNA19239
Known GenesNXN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691079
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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