A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857311



Internal ID10255064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:115771115..115771214hg38UCSC Ensembl
Outerchr12:116208920..116209019hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746414, esv2746416
Supporting Variants
SamplesSSM087
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)essv6857311
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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