A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987880



Internal ID12982327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193694146..193732820hg38UCSC Ensembl
Innerchr1:193663276..193701950hg19UCSC Ensembl
Innerchr1:191929899..191968573hg18UCSC Ensembl
Innerchr1:190394933..190433607hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3838675
hg1938675
hg1838675
hg1738675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34989
Supporting Variants
SamplesNA19152
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987880
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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