A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6715866



Internal ID9781074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140583260..140584185hg38UCSC Ensembl
Outerchr7:140283060..140283985hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38926
hg19926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735244
Supporting Variants
SamplesSSM043
Known GenesDENND2A
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)essv6715866
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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