A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736915



Internal ID9971248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40601450..40601512hg38UCSC Ensembl
Outerchr8:40458969..40459031hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856186
SamplesSSM087
Known GenesZMAT4
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)esv2736915
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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