A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987036



Internal ID12981440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195905213..196051213hg38UCSC Ensembl
Innerchr1:195874343..196020343hg19UCSC Ensembl
Innerchr1:194140966..194286966hg18UCSC Ensembl
Innerchr1:192606000..192752000hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38146001
hg19146001
hg18146001
hg17146001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35094
Supporting Variants
SamplesNA18969
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987036
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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