A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6768198



Internal ID10001064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:123405785..123406350hg38UCSC Ensembl
Outerchr9:126168064..126168629hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739030
Supporting Variants
SamplesSSM008
Known GenesDENND1A
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)essv6768198
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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