A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6728429



Internal ID10139068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131383009..131383277hg38UCSC Ensembl
Outerchr12:131867554..131867822hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746855, esv2746835
Supporting Variants
SamplesSSM046
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)essv6728429
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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