A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746498



Internal ID9980782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122525790..122526111hg38UCSC Ensembl
Outerchr12:123010337..123010658hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6698805, essv6900696, essv6702528, essv6908957, essv6891348, essv6882385, essv6970886, essv6819789, essv6949159, essv6866421, essv6945035, essv6677898, essv6688358, essv6894715, essv6685147, essv6965892, essv6673259, essv6862480, essv6812282, essv6796107, essv6800292, essv6851316, essv6897712, essv6827784, essv6857322, essv6977335, essv6728403, essv6959379, essv6867258
SamplesSSM027, SSM086, SSM099, SSM078, SSM088, SSM089, SSM031, SSM035, SSM072, SSM071, SSM032, SSM039, SSM024, SSM094, SSM097, SSM100, SSM011, SSM028, SSM029, SSM034, SSM087, SSM038, SSM046, SSM023, SSM026, SSM014, SSM098, SSM076, SSM080
Known GenesRSRC2
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)esv2746498
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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