A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989783



Internal ID12629557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52972795..55490369hg38UCSC Ensembl
Innerchr10:54732555..57250129hg19UCSC Ensembl
Innerchr10:54402561..56920135hg18UCSC Ensembl
Innerchr10:54402561..56920135hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382517575
hg192517575
hg182517575
hg172517575
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989783
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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