A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746384



Internal ID10327354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113642123..113642354hg38UCSC Ensembl
Outerchr12:114079928..114080159hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6806276, essv6971895, essv6936202, essv6741128, essv6940409, essv6835410, essv6977319, essv6716862, essv6749738, essv6924413, essv6761036, essv6739054
SamplesSSM009, SSM021, SSM018, SSM061, SSM029, SSM007, SSM022, SSM010, SSM004, SSM043, SSM052, SSM056
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)esv2746384
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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