A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735329



Internal ID10318965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149233789..149234263hg38UCSC Ensembl
Outerchr7:148930880..148931354hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891143
SamplesSSM012
Known Genes
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)esv2735329
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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