A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988229



Internal ID12633943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35068980..35159531hg38UCSC Ensembl
Innerchr22:35464973..35555524hg19UCSC Ensembl
Innerchr22:33794973..33885524hg18UCSC Ensembl
Innerchr22:33789527..33880078hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3890552
hg1990552
hg1890552
hg1790552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35003
Supporting Variants
SamplesNA18612
Known GenesISX
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988229
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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