A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745575



Internal ID3293527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13788443..13788965hg38UCSC Ensembl
Outerchr12:13941377..13941899hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772044, essv6977159, essv6936117, essv6908618, essv6752561, essv6965760, essv6862365, essv6819673, essv6851160, essv6857178, essv6959247, essv6746835, essv6673131
SamplesSSM065, SSM027, SSM086, SSM055, SSM078, SSM088, SSM031, SSM057, SSM029, SSM021, SSM002, SSM087, SSM026
Known GenesGRIN2B
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)esv2745575
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer