A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6939096



Internal ID9988725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26150284..26150790hg38UCSC Ensembl
Outerchr12:26303217..26303723hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38507
hg19507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745653
Supporting Variants
SamplesSSM003
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)essv6939096
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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