A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738635



Internal ID10322271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:80685597..80685988hg38UCSC Ensembl
Outerchr9:83300512..83300903hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6923829, essv6701951, essv6944382, essv6827230
SamplesSSM039, SSM023, SSM018, SSM080
Known Genes
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)esv2738635
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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