A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984694



Internal ID12983345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121681799..121741787hg38UCSC Ensembl
Innerchr5:121017494..121077482hg19UCSC Ensembl
Innerchr5:121045393..121105381hg18UCSC Ensembl
Innerchr5:121045393..121105381hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3859989
hg1959989
hg1859989
hg1759989
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752059
Supporting Variants
SamplesSPC_166
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984694
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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