A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745435



Internal ID10326405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3555308..3556267hg38UCSC Ensembl
Outerchr12:3664474..3665433hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38960
hg19960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819649, essv6831277, essv6965724, essv6765742, essv6851110, essv6771498, essv6760940, essv6867100, essv6803471, essv6749654, essv6763359, essv6834850, essv6737861, essv6959204, essv6673098, essv6743995, essv6908340, essv6857138
SamplesSSM008, SSM027, SSM087, SSM073, SSM050, SSM002, SSM061, SSM062, SSM026, SSM089, SSM031, SSM086, SSM081, SSM082, SSM078, SSM053, SSM056, SSM063
Known GenesPRMT8
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)esv2745435
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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