A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745413



Internal ID9979697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2538692..2540030hg38UCSC Ensembl
Outerchr12:2647858..2649196hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381339
hg191339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765741, essv6916082, essv6959198, essv6867095, essv6862327, essv6857136, essv6965716, essv6819648, essv6710809, essv6936080, essv6763358, essv6834587, essv6851105, essv6977100, essv6908815, essv6673096
SamplesSSM010, SSM027, SSM086, SSM006, SSM078, SSM088, SSM089, SSM031, SSM016, SSM062, SSM029, SSM021, SSM063, SSM087, SSM026, SSM014
Known GenesCACNA1C
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)esv2745413
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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