A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745420



Internal ID10326390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2767204..2768946hg38UCSC Ensembl
Outerchr12:2876370..2878112hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381743
hg191743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6931792, essv6894608, essv6716750, essv6851106, essv6920120, essv6977101, 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, SSM029, 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)esv2745420
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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