A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989221



Internal ID12972790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104585969..104953865hg38UCSC Ensembl
Innerchr5:103921670..104289566hg19UCSC Ensembl
Innerchr5:103949569..104317465hg18UCSC Ensembl
Innerchr5:103949569..104317465hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38367897
hg19367897
hg18367897
hg17367897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752054
Supporting Variants
SamplesBEC_351
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989221
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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