A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737766



Internal ID9972105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141252443..141252601hg38UCSC Ensembl
Outerchr8:142262542..142262700hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672236
SamplesSSM031
Known GenesSLC45A4
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)esv2737766
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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