A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745414



Internal ID9979698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2539269..2539382hg38UCSC Ensembl
Outerchr12:2648435..2648548hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857136, essv6862327, essv6959198, essv6867095, essv6851105, essv6908815, essv6673096
SamplesSSM087, SSM088, SSM026, SSM089, SSM031, SSM014, SSM086
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)esv2745414
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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