A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745751



Internal ID3293703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32810669..32810973hg38UCSC Ensembl
Outerchr12:32963603..32963907hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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
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)esv2745751
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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