A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796030



Internal ID9852690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30084324..30090623hg38UCSC Ensembl
Outerchr12:30237257..30243556hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg386300
hg196300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745689, esv2745695
Supporting Variants
SamplesSSM071
Known Genes
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)essv6796030
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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