A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738825



Internal ID10322461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:98517689..98518271hg38UCSC Ensembl
Outerchr9:101279971..101280553hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38583
hg19583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701978, essv6827258, essv6970291
SamplesSSM039, SSM028, SSM080
Known GenesGABBR2
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)esv2738825
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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