A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750827



Internal ID12984379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208253260..208281260hg38UCSC Ensembl
Innerchr1:208426605..208454605hg19UCSC Ensembl
Innerchr1:206493228..206521228hg18UCSC Ensembl
Innerchr1:204815000..204843000hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3828001
hg1928001
hg1828001
hg1728001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14e55
Supporting Variantsessv6982098, essv6982099
SamplesBEC_520
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)esv2750827
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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