A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983403



Internal ID12629551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52972834..55490334hg38UCSC Ensembl
Innerchr10:54732594..57250094hg19UCSC Ensembl
Innerchr10:54402600..56920100hg18UCSC Ensembl
Innerchr10:54402600..56920100hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382517501
hg192517501
hg182517501
hg172517501
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)essv6983403
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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