A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927894



Internal ID9690503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2695311..2743644hg38UCSC Ensembl
Outerchr12:2804477..2852810hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3848334
hg1948334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745416
Supporting Variants
SamplesSSM019
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)essv6927894
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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