A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7609n54



Internal ID20141033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54031284..54036948hg38UCSC Ensembl
chr20:52647823..52653487hg19UCSC Ensembl
chr20:52081230..52086894hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg385665
hg195665
hg185665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv586262, nsv586251, nsv586237
Samples1782681216_A, 1780854464_A, HGDP00254, NINDS_220, NINDS_118, 1780854486_A, HGDP00730
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7609n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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