A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989336



Internal ID12974596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27380550..27485572hg38UCSC Ensembl
Innerchr10:27669479..27774501hg19UCSC Ensembl
Innerchr10:27709485..27814507hg18UCSC Ensembl
Innerchr10:27709485..27814507hg17UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38105023
hg19105023
hg18105023
hg17105023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750890
Supporting Variants
SamplesBEC_529
Known GenesPTCHD3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989336
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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