A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745401



Internal ID9979685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1871171..1871400hg38UCSC Ensembl
Outerchr12:1980337..1980566hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783529
SamplesSSM068
Known GenesCACNA2D4
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)esv2745401
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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