A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745445



Internal ID10326415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4243590..4244291hg38UCSC Ensembl
Outerchr12:4352756..4353457hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6681531, essv6702413, essv6677778, essv6787718, essv6728295
SamplesSSM046, SSM039, SSM069, SSM032, SSM033
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)esv2745445
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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