A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv249e55



Internal ID22761199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:16075727..16163959hg38UCSC Ensembl
chr8:15933236..16021468hg19UCSC Ensembl
chr8:15977607..16065839hg18UCSC Ensembl
chr8:15977607..16065839hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3888233
hg1988233
hg1888233
hg1788233
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752242, esv2752243
SamplesBEC_191, BEC_73
Known GenesMSR1
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)dgv249e55
Frequency
Sample Size771
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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