A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987844



Internal ID12971958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187101223..188020463hg38UCSC Ensembl
Innerchr1:187070355..187989594hg19UCSC Ensembl
Innerchr1:185336978..186256217hg18UCSC Ensembl
Innerchr1:183802012..184721251hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38919241
hg19919240
hg18919240
hg17919240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750817
Supporting Variants
SamplesBEC_132
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987844
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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