A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989784



Internal ID12629558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52996713..55513348hg38UCSC Ensembl
Innerchr10:54756473..57273108hg19UCSC Ensembl
Innerchr10:54426479..56943114hg18UCSC Ensembl
Innerchr10:54426479..56943114hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382516636
hg192516636
hg182516636
hg172516636
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750962
Supporting Variants
SamplesBEC_649
Known GenesPCDH15, RNU6-59P
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989784
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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