A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750966



Internal ID12984518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:55994834..56263633hg38UCSC Ensembl
Innerchr10:57754594..58023394hg19UCSC Ensembl
Innerchr10:57424600..57693400hg18UCSC Ensembl
Innerchr10:57424600..57693400hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38268800
hg19268801
hg18268801
hg17268801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989570, essv6989283
SamplesBEC_520
Known Genes
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)esv2750966
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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