A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739462



Internal ID9973803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137716055..137716272hg38UCSC Ensembl
Outerchr9:140610507..140610724hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6799825, essv6965144, essv6944479
SamplesSSM027, SSM023, SSM072
Known GenesEHMT1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2739462
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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