A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983843



Internal ID12629332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44570563..44634709hg38UCSC Ensembl
Innerchr21:45990446..46054626hg19UCSC Ensembl
Innerchr21:44814874..44879054hg18UCSC Ensembl
Innerchr21:44814874..44879054hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3864147
hg1964181
hg1864181
hg1764181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751931
Supporting Variants
SamplesBEC_633
Known GenesKRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, TSPEAR
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983843
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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