A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6920248



Internal ID10030500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104975290..104979748hg38UCSC Ensembl
Outerchr12:105369068..105373526hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384459
hg194459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746320
Supporting Variants
SamplesSSM017
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)essv6920248
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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