A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745403



Internal ID9979687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1908665..1908823hg38UCSC Ensembl
Outerchr12:2017831..2017989hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977098, essv6965713, essv6673093, essv6857134
SamplesSSM027, SSM031, SSM029, SSM087
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)esv2745403
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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