A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6904517



Internal ID9669464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:120494768..120497448hg38UCSC Ensembl
Outerchr9:123257046..123259726hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382681
hg192681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738996
Supporting Variants
SamplesSSM013
Known GenesCDK5RAP2
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)essv6904517
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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