A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985612



Internal ID12625649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16823280..18151519hg38UCSC Ensembl
Innerchr16:16917137..18245376hg19UCSC Ensembl
Innerchr16:16824638..18152877hg18UCSC Ensembl
Innerchr16:16824638..18152877hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381328240
hg191328240
hg181328240
hg171328240
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751550
Supporting Variants
SamplesBEC_301
Known GenesXYLT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985612
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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