A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749592



Internal ID9983876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40037413..40038188hg38UCSC Ensembl
Outerchr15:40329614..40330389hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38776
hg19776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758499, essv6851837, essv6867662, essv6882628, essv6772476
SamplesSSM059, SSM065, SSM089, 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)esv2749592
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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