A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984068



Internal ID12630948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:64669249..64727280hg38UCSC Ensembl
Innerchr5:63965076..64023107hg19UCSC Ensembl
Innerchr5:64000832..64058863hg18UCSC Ensembl
Innerchr5:64000832..64058863hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3858032
hg1958032
hg1858032
hg1758032
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)essv6984068
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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