A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv129e55



Internal ID20126608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46080231..46286690hg38UCSC Ensembl
chr17:44157597..44364056hg19UCSC Ensembl
chr17:41513416..41719833hg18UCSC Ensembl
chr17:41513416..41719833hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38206460
hg19206460
hg18206418
hg17206418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751711, esv2751743, esv2751755
SamplesBEC_547, BEC_508, BEC_24
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv129e55
Frequency
Sample Size771
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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