A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739466



Internal ID10323102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137774227..137774501hg38UCSC Ensembl
Outerchr9:140668679..140668953hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702038, essv6712667
SamplesSSM039, SSM042
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)esv2739466
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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