A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750890



Internal ID12984442
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 StatusM
Merged Variants
Supporting Variantsessv6989336, essv6989709, essv6982945
SamplesBEC_529
Known GenesPTCHD3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750890
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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