A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971340



Internal ID9645219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27095557..27610569hg38UCSC Ensembl
Outerchr12:27248490..27763502hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38515013
hg19515013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745664
Supporting Variants
SamplesSSM004
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
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)essv6971340
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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