A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746403



Internal ID10327373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114241800..114242162hg38UCSC Ensembl
Outerchr12:114679605..114679967hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv200e201
Supporting Variantsessv6977324, essv6899955, essv6791911, essv6823695, essv6835421, essv6842499, essv6885128, essv6846002, essv6959370, essv6904969, essv6741129, essv6783625, essv6695622, essv6940410, essv6732191, essv6970874, essv6920255
SamplesSSM079, SSM013, SSM028, SSM084, SSM047, SSM029, SSM026, SSM017, SSM085, SSM068, SSM037, SSM022, SSM010, SSM070, SSM095, SSM052, SSM012
Known Genes
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)esv2746403
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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