A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751961



Internal ID12985513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25272817..25529111hg38UCSC Ensembl
Innerchr22:25668784..25925078hg19UCSC Ensembl
Innerchr22:23998784..24255078hg18UCSC Ensembl
Innerchr22:23993338..24249632hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38256295
hg19256295
hg18256295
hg17256295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv176e55
Supporting Variantsessv6990118, essv6989490, essv6985362, essv6985363, essv6985361
SamplesSPC_153
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
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)esv2751961
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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