A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6809287



Internal ID9657348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:34434487..34580478hg38UCSC Ensembl
Outerchr15:34726688..34872679hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38145992
hg19145992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749550, esv2749548, esv2749553
Supporting Variants
SamplesSSM009
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)essv6809287
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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