A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672456



Internal ID9744263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:112517095..112517188hg38UCSC Ensembl
Outerchr9:115279375..115279468hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738949
Supporting Variants
SamplesSSM031
Known GenesKIAA1958
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)essv6672456
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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