A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981435



Internal ID12972098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16093540..16156540hg38UCSC Ensembl
Innerchr8:15951049..16014049hg19UCSC Ensembl
Innerchr8:15995420..16058420hg18UCSC Ensembl
Innerchr8:15995420..16058420hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3863001
hg1963001
hg1863001
hg1763001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752243
Supporting Variants
SamplesBEC_191
Known GenesMSR1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981435
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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