A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796067



Internal ID10199040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65813305..65813606hg38UCSC Ensembl
Outerchr12:66207085..66207386hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745997
Supporting Variants
SamplesSSM071
Known GenesRPSAP52
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)essv6796067
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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