A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989441



Internal ID12977230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:116148463..116184463hg38UCSC Ensembl
Innerchr3:115867310..115903310hg19UCSC Ensembl
Innerchr3:117350000..117386000hg18UCSC Ensembl
Innerchr3:117350000..117386000hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3836001
hg1936001
hg1836001
hg1736001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751976
Supporting Variants
SamplesBEC_720
Known GenesLSAMP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989441
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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