A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750821



Internal ID12984373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191490698..191652662hg38UCSC Ensembl
Innerchr1:191459828..191621792hg19UCSC Ensembl
Innerchr1:189726451..189888415hg18UCSC Ensembl
Innerchr1:188191485..188353449hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38161965
hg19161965
hg18161965
hg17161965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987448, essv6983933, essv6983932
SamplesBEC_735
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750821
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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