A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752074



Internal ID12638940
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 StatusM
Merged Variants
Supporting Variantsessv6984066, essv6984067, essv6984068
SamplesBEC_765
Known GenesFAM159B, SREK1IP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752074
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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