A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984066



Internal ID12630946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:64636623..64733547hg38UCSC Ensembl
Innerchr5:63932450..64029374hg19UCSC Ensembl
Innerchr5:63968206..64065130hg18UCSC Ensembl
Innerchr5:63968206..64065130hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3896925
hg1996925
hg1896925
hg1796925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752074
Supporting Variants
SamplesBEC_765
Known GenesFAM159B, SREK1IP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984066
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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