A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745421



Internal ID10326391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2767964..2768907hg38UCSC Ensembl
Outerchr12:2877130..2878073hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6931792, essv6894608, essv6716750, essv6851106, essv6920120, essv6746808, essv6720639, essv6795989, essv6936082, essv6927896, essv6965719, essv6775660, essv6732082, essv6702411, essv6768466, essv6772015, essv6800175, essv6898866, essv6724458, essv6959199, essv6805209
SamplesSSM071, SSM027, SSM045, SSM064, SSM065, SSM039, SSM009, SSM021, SSM047, SSM026, SSM017, SSM019, SSM044, SSM086, SSM066, SSM072, SSM020, SSM055, SSM043, SSM098, SSM012
Known GenesLOC283440
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)esv2745421
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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