A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979467



Internal ID12633548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46595773..46657900hg38UCSC Ensembl
Innerchr21:48015686..48077812hg19UCSC Ensembl
Innerchr21:46840114..46902240hg18UCSC Ensembl
Innerchr21:46840114..46902240hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3862128
hg1962127
hg1862127
hg1762127
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34393
Supporting Variants
SamplesNA18561
Known GenesPRMT2, S100B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979467
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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