A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977158



Internal ID9734342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13045928..13046363hg38UCSC Ensembl
Outerchr12:13198862..13199297hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745567, esv2745571
Supporting Variants
SamplesSSM029
Known GenesKIAA1467
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)essv6977158
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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