A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984067



Internal ID12630947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:64669217..64733517hg38UCSC Ensembl
Innerchr5:63965044..64029344hg19UCSC Ensembl
Innerchr5:64000800..64065100hg18UCSC Ensembl
Innerchr5:64000800..64065100hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3864301
hg1964301
hg1864301
hg1764301
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)essv6984067
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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