A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6673840



Internal ID9743017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:66414196..66414334hg38UCSC Ensembl
Outerchr15:66706534..66706672hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749791, esv2749792
Supporting Variants
SamplesSSM031
Known GenesMAP2K1
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)essv6673840
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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