A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv243n54



Internal ID22768138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40547588..40561168hg38UCSC Ensembl
chr1:41013260..41026840hg19UCSC Ensembl
chr1:40785847..40799427hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3813581
hg1913581
hg1813581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546067, nsv546066
Samples
Known GenesZNF684
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv243n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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