A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989542



Internal ID12974146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190034156..190078695hg38UCSC Ensembl
Innerchr1:190003286..190047825hg19UCSC Ensembl
Innerchr1:188269909..188314448hg18UCSC Ensembl
Innerchr1:186734943..186779482hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3844540
hg1944540
hg1844540
hg1744540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750820
Supporting Variants
SamplesBEC_501
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989542
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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