A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749802



Internal ID10330772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:67609301..67609800hg38UCSC Ensembl
Outerchr15:67901639..67902138hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665325, essv6857868, essv6673844, essv6959979, essv6867691, essv6966462, essv6851870, essv6766014
SamplesSSM027, SSM087, SSM029, SSM026, SSM089, SSM031, SSM086, SSM063
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)esv2749802
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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