A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988307



Internal ID12634522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:91118861..91171610hg38UCSC Ensembl
Innerchr8:92131089..92183838hg19UCSC Ensembl
Innerchr8:92200265..92253014hg18UCSC Ensembl
Innerchr8:92200265..92253014hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3852750
hg1952750
hg1852750
hg1752750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35058
Supporting Variants
SamplesNA18948
Known GenesLRRC69
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988307
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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