A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2727n54



Internal ID22770622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80503617..80554546hg38UCSC Ensembl
chr12:80897396..80948325hg19UCSC Ensembl
chr12:79421527..79472456hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3850930
hg1950930
hg1850930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559459, nsv559458, nsv559457, nsv559456
Samples1780854449_A, 1780862470_A
Known GenesPTPRQ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2727n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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