A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749801



Internal ID10330771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:67575961..67577166hg38UCSC Ensembl
Outerchr15:67868299..67869504hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381206
hg191206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763649, essv6744316, essv6766013
SamplesSSM062, SSM053, 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)esv2749801
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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