A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746038



Internal ID10327008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:71365364..71365532hg38UCSC Ensembl
Outerchr12:71759144..71759312hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959319, essv6873712, essv6835142, essv6823662, essv6819739, essv6834919, essv6677854, essv6977247, essv6698776, essv6862430, essv6851238
SamplesSSM079, SSM038, SSM088, SSM029, SSM026, SSM032, SSM086, SSM082, SSM078, SSM010, SSM091
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)esv2746038
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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