A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751931



Internal ID12638797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44570563..44634755hg38UCSC Ensembl
Innerchr21:45990446..46054672hg19UCSC Ensembl
Innerchr21:44814874..44879100hg18UCSC Ensembl
Innerchr21:44814874..44879100hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3864193
hg1964227
hg1864227
hg1764227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983843, essv6989865, essv6983842
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
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751931
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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