A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747009



Internal ID9981293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132556374..132556674hg38UCSC Ensembl
Outerchr12:133132960..133133260hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959455, essv6945072, essv6787860, essv6834981, essv6677929
SamplesSSM023, SSM069, SSM026, SSM032, SSM082
Known GenesFBRSL1
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)esv2747009
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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