A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749622



Internal ID9983906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:42129196..42141609hg38UCSC Ensembl
Outerchr15:42421394..42433807hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3812414
hg1912414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839018, essv6862876
SamplesSSM083, SSM088
Known GenesPLA2G4F
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)esv2749622
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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