A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745751



Internal ID5056483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32963603..32963907hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6908888, essv6862389, essv6834890, essv6677823, essv6815474, essv6965779, essv6702458, essv6685090, essv6944960, essv6851186, essv6838628, essv6827704, essv6695551, essv6865698, essv6857207, essv6977191, essv6867168, essv6888005, essv6709501, essv6970812, essv6688297, essv6728336, essv6691609, essv6819699, essv6894652, essv6812225, essv6687500, essv6673159, essv6809385, essv6959271
SamplesSSM027, SSM082, SSM086, SSM036, SSM078, SSM088, SSM089, SSM031, SSM035, SSM032, SSM039, SSM083, SSM041, SSM077, SSM005, SSM011, SSM028, SSM029, SSM037, SSM034, SSM087, SSM046, SSM096, SSM023, SSM075, SSM026, SSM014, SSM098, SSM076, SSM080
Known GenesPKP2
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2745751
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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