A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6744320



Internal ID10152804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:70729505..70735078hg38UCSC Ensembl
Outerchr15:71021844..71027417hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg385574
hg195574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749845
Supporting Variants
SamplesSSM053
Known GenesUACA
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)essv6744320
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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