A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979356



Internal ID12980045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100089052..100326227hg38UCSC Ensembl
Innerchr5:99424756..99661931hg19UCSC Ensembl
Innerchr5:99452655..99689830hg18UCSC Ensembl
Innerchr5:99452655..99689830hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38237176
hg19237176
hg18237176
hg17237176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34624
Supporting Variants
SamplesNA18532
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979356
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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