A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988765



Internal ID12631110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25323279..25509879hg38UCSC Ensembl
Innerchr22:25719246..25905846hg19UCSC Ensembl
Innerchr22:24049246..24235846hg18UCSC Ensembl
Innerchr22:24043800..24230400hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38186601
hg19186601
hg18186601
hg17186601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751949
Supporting Variants
SamplesBEC_793
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988765
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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