A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv305n54



Internal ID20133729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70010111..70101298hg38UCSC Ensembl
chr1:70475794..70566981hg19UCSC Ensembl
chr1:70248382..70339569hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3891188
hg1991188
hg1891188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546453, nsv546454
Samples1780862003_A, 1780862459_A
Known GenesLRRC7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv305n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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