A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738934



Internal ID9973275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:111403275..111407462hg38UCSC Ensembl
Outerchr9:114165555..114169742hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg384188
hg194188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734906, essv6691235
SamplesSSM036, SSM049
Known GenesKIAA0368
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)esv2738934
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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