A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6834882



Internal ID9888003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27281068..27281377hg38UCSC Ensembl
Outerchr12:27434001..27434310hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745664, esv2745667
Supporting Variants
SamplesSSM082
Known GenesSTK38L
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)essv6834882
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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