A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6720789



Internal ID9784130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132620755..132621106hg38UCSC Ensembl
Outerchr12:133197341..133197692hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747027, esv2747028
Supporting Variants
SamplesSSM044
Known GenesP2RX2
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)essv6720789
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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