A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800174



Internal ID9855754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2107352..2107497hg38UCSC Ensembl
Outerchr12:2216518..2216663hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745406, esv2745407
Supporting Variants
SamplesSSM072
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)essv6800174
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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