A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986037



Internal ID12625086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25323979..25479579hg38UCSC Ensembl
Innerchr22:25719946..25875546hg19UCSC Ensembl
Innerchr22:24049946..24205546hg18UCSC Ensembl
Innerchr22:24044500..24200100hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38155601
hg19155601
hg18155601
hg17155601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751944
Supporting Variants
SamplesBEC_101
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986037
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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