A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750891



Internal ID12637757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:3098894..3164173hg38UCSC Ensembl
Innerchr10:3141086..3206365hg19UCSC Ensembl
Innerchr10:3131086..3196365hg18UCSC Ensembl
Innerchr10:3131086..3196365hg17UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg3865280
hg1965280
hg1865280
hg1765280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983863, essv6983864, essv6983865
SamplesBEC_727
Known GenesPFKP, PITRM1, PITRM1-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750891
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer