A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696833



Internal ID13659420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64370950..64375447hg38UCSC Ensembl
Innerchr9:64371950..64374449hg38UCSC Ensembl
Outerchr9:64369953..64376447hg38UCSC Ensembl
chr9:43127656..43132154hg19UCSC Ensembl
Innerchr9:43128656..43131154hg19UCSC Ensembl
Outerchr9:43126656..43133154hg19UCSC Ensembl
chr9:43117652..43122150hg18UCSC Ensembl
Innerchr9:43118652..43121150hg18UCSC Ensembl
Outerchr9:43116652..43123150hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg384498
hg194499
hg184499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3415864
Supporting Variants
SamplesNA12878
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696833
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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