A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6959255



Internal ID10061671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22699705..22699776hg38UCSC Ensembl
Outerchr12:22852639..22852710hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745633, esv2745631
Supporting Variants
SamplesSSM026
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)essv6959255
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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