A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6876350



Internal ID9925512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:123404333..123405056hg38UCSC Ensembl
Outerchr9:126166612..126167335hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739019, esv2739021
Supporting Variants
SamplesSSM092
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)essv6876350
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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