A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11n64



Internal ID20146449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55603545..55679951hg38UCSC Ensembl
chr11:55371021..55447427hg19UCSC Ensembl
chr11:55127597..55204003hg18UCSC Ensembl
chr11:55127597..55204003hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3876407
hg1976407
hg1876407
hg1776407
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818829, nsv818830
SamplesNA19142, NA19137, NA11881, NA12043, NA12249, NA18952, NA12875, NA10847, NA18855, NA07348, NA18965, NA12044, NA18949, NA19143, NA12865, NA19140, NA07345, NA07357, NA18856, NA18609, NA18547, NA12239, NA18537, NA06985, NA18968, NA19141, NA19145, NA12891, NA18987, NA18999, NA10857, NA10860, NA06991, NA19193, NA18857, NA10835, NA18577, NA12878, NA11992, NA11993, NA12248, NA12874, NA06994, NA07000, NA10861
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)dgv11n64
Frequency
Sample Size112
Observed Gain13
Observed Loss32
Observed Complex0
Frequencyn/a


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