A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983404



Internal ID12629552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:53071834..55513334hg38UCSC Ensembl
Innerchr10:54831594..57273094hg19UCSC Ensembl
Innerchr10:54501600..56943100hg18UCSC Ensembl
Innerchr10:54501600..56943100hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382441501
hg192441501
hg182441501
hg172441501
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)essv6983404
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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