A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6728381



Internal ID10139024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93554556..93554715hg38UCSC Ensembl
Outerchr12:93948332..93948491hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746223, esv2746221, esv2746218
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)essv6728381
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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