A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745443



Internal ID10326413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3906283..3906523hg38UCSC Ensembl
Outerchr12:4015449..4015689hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815433, essv6728294, essv6718264, essv6885054, essv6709455, essv6924292, essv6920124, essv6834621, essv6851113, essv6724462, essv6803472
SamplesSSM045, SSM046, SSM073, SSM041, SSM018, SSM017, SSM001, SSM086, SSM077, SSM010, SSM095
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)esv2745443
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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