A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619193



Internal ID7006073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:514830..877545hg38UCSC Ensembl
Innerchr9:514980..877395hg38UCSC Ensembl
Outerchr9:514680..877695hg38UCSC Ensembl
chr9:514830..877545hg19UCSC Ensembl
Innerchr9:514980..877395hg19UCSC Ensembl
Outerchr9:514680..877695hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38362716
hg19362716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13375082, essv13375083
SamplesHG01602, NA20854
Known GenesDMRT1, KANK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619193
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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