A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749806



Internal ID10330776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:67771075..67771165hg38UCSC Ensembl
Outerchr15:68063413..68063503hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678240
SamplesSSM032
Known GenesMAP2K5
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)esv2749806
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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