A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749594



Internal ID9983878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40037591..40037736hg38UCSC Ensembl
Outerchr15:40329792..40329937hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851837, essv6867662, essv6882628
SamplesSSM089, SSM094, SSM086
Known GenesSRP14
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)esv2749594
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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