A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6862431



Internal ID9663688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:120494767..120497425hg38UCSC Ensembl
Outerchr9:123257045..123259703hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382659
hg192659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738996
Supporting Variants
SamplesSSM011
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)essv6862431
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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