A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984022



Internal ID12977550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36101234..36239594hg38UCSC Ensembl
Innerchr21:37473532..37611892hg19UCSC Ensembl
Innerchr21:36395402..36533762hg18UCSC Ensembl
Innerchr21:36395402..36533762hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38138361
hg19138361
hg18138361
hg17138361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751927
Supporting Variants
SamplesBEC_745
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984022
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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