A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749792



Internal ID9984076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:66414196..66414335hg38UCSC Ensembl
Outerchr15:66706534..66706673hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966459, essv6857863, essv6673840, essv6867686
SamplesSSM027, SSM087, SSM089, SSM031
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)esv2749792
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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