A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989875



Internal ID12977337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16093520..16156519hg38UCSC Ensembl
Innerchr8:15951029..16014028hg19UCSC Ensembl
Innerchr8:15995400..16058399hg18UCSC Ensembl
Innerchr8:15995400..16058399hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3863000
hg1963000
hg1863000
hg1763000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752242
Supporting Variants
SamplesBEC_73
Known GenesMSR1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989875
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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