A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690994



Internal ID15103320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:812462..813060hg38UCSC Ensembl
Innerchr17:812461..813061hg38UCSC Ensembl
Outerchr17:811462..814060hg38UCSC Ensembl
chr17:715702..716300hg19UCSC Ensembl
Innerchr17:715701..716301hg19UCSC Ensembl
Outerchr17:714702..717300hg19UCSC Ensembl
chr17:662452..663050hg18UCSC Ensembl
Innerchr17:663051..662451hg18UCSC Ensembl
Outerchr17:661452..664050hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363833
Supporting Variants
SamplesNA19240
Known GenesNXN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690994
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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