A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989515



Internal ID12973927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:16822849..17126108hg38UCSC Ensembl
Innerchr21:18195168..18498426hg19UCSC Ensembl
Innerchr21:17117039..17420297hg18UCSC Ensembl
Innerchr21:17117039..17420297hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38303260
hg19303259
hg18303259
hg17303259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751924
Supporting Variants
SamplesBEC_468
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989515
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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