A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738882



Internal ID9973223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:105321006..105327034hg38UCSC Ensembl
Outerchr9:108083287..108089315hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg386029
hg196029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915759
SamplesSSM016
Known GenesSLC44A1
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)esv2738882
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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