A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6701978



Internal ID10115249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:98517750..98518073hg38UCSC Ensembl
Outerchr9:101280032..101280355hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738825
Supporting Variants
SamplesSSM039
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)essv6701978
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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