A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948622



Internal ID9708861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:123404672..123404798hg38UCSC Ensembl
Outerchr9:126166951..126167077hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739023, esv2739024, esv2739019, esv2739021
Supporting Variants
SamplesSSM024
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)essv6948622
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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