A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696700



Internal ID13658307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40235738..40238236hg38UCSC Ensembl
Innerchr9:40236738..40237236hg38UCSC Ensembl
Outerchr9:40234738..40239236hg38UCSC Ensembl
chr9:42380756..42383254hg19UCSC Ensembl
Innerchr9:42381756..42382254hg19UCSC Ensembl
Outerchr9:42379756..42384254hg19UCSC Ensembl
chr9:42370752..42373250hg18UCSC Ensembl
Innerchr9:42371752..42372250hg18UCSC Ensembl
Outerchr9:42369752..42374250hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439554
Supporting Variants
SamplesNA12878
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696700
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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