A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745997



Internal ID10326967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65813222..65813597hg38UCSC Ensembl
Outerchr12:66207002..66207377hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720717, essv6796067, essv6755590, essv6738710, essv6706243, essv6931879, essv6879524, essv6894678, essv6803537, essv6716826, essv6695573
SamplesSSM071, SSM073, SSM093, SSM058, SSM044, SSM040, SSM020, SSM007, SSM037, SSM043, SSM098
Known GenesRPSAP52
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)esv2745997
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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