A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838675



Internal ID10238478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114063865..114064187hg38UCSC Ensembl
Outerchr12:114501670..114501992hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746395, esv2746398
Supporting Variants
SamplesSSM083
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)essv6838675
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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