A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681692



Internal ID9751135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132620687..132621169hg38UCSC Ensembl
Outerchr12:133197273..133197755hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747027, esv2747028
Supporting Variants
SamplesSSM033
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)essv6681692
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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