A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735426



Internal ID3285922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:151855341..151855551hg38UCSC Ensembl
Outerchr7:151552426..151552636hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6795070
SamplesSSM071
Known GenesPRKAG2
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)esv2735426
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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