A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982779



Internal ID12975529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44966586..45003835hg38UCSC Ensembl
Innerchr4:44968603..45005852hg19UCSC Ensembl
Innerchr4:44663360..44700609hg18UCSC Ensembl
Innerchr4:44809531..44846780hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3837250
hg1937250
hg1837250
hg1737250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752047
Supporting Variants
SamplesBEC_592
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982779
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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