A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6806865



Internal ID9656846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132620674..132621297hg38UCSC Ensembl
Outerchr12:133197260..133197883hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747027
Supporting Variants
SamplesSSM009
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)essv6806865
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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