A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv811n54



Internal ID22768706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212828746..212844783hg38UCSC Ensembl
chr1:213002088..213018125hg19UCSC Ensembl
chr1:211068711..211084748hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3816038
hg1916038
hg1816038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549163, nsv549175, nsv549169, nsv549157
Samples
Known GenesC1orf227
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv811n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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