A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745573



Internal ID5056305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13941180..13942159hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6758221, essv6772044, essv6977159, essv6936117, essv6908618, essv6760966, essv6737883, essv6765761, essv6752561, essv6965760, essv6862365, essv6819673, essv6744021, essv6851160, essv6857178, essv6959247, essv6746835, essv6673131
SamplesSSM065, SSM027, SSM053, SSM086, SSM055, SSM061, SSM078, SSM088, SSM031, SSM057, SSM050, SSM029, SSM021, SSM002, SSM063, SSM087, SSM026, SSM059
Known GenesGRIN2B
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2745573
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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