A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985534



Internal ID12626433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25323979..25523779hg38UCSC Ensembl
Innerchr22:25719946..25919746hg19UCSC Ensembl
Innerchr22:24049946..24249746hg18UCSC Ensembl
Innerchr22:24044500..24244300hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38199801
hg19199801
hg18199801
hg17199801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751946
Supporting Variants
SamplesBEC_379
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985534
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