A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985382



Internal ID12636554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36143653..36183513hg38UCSC Ensembl
Innerchr22:36539701..36579561hg19UCSC Ensembl
Innerchr22:34869647..34909507hg18UCSC Ensembl
Innerchr22:34864201..34904061hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3839861
hg1939861
hg1839861
hg1739861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751964
Supporting Variants
SamplesSPC_157
Known GenesAPOL3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985382
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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