A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736722



Internal ID9971054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19461336..19461452hg38UCSC Ensembl
Outerchr8:19318847..19318963hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975911, essv6964696
SamplesSSM027, SSM029
Known GenesCSGALNACT1
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)esv2736722
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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