A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6709451



Internal ID9774740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2107349..2107512hg38UCSC Ensembl
Outerchr12:2216515..2216678hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745407, esv2745406
Supporting Variants
SamplesSSM041
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)essv6709451
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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