A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988422



Internal ID12625650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:57523070..57736870hg38UCSC Ensembl
Innerchr18:55190302..55404102hg19UCSC Ensembl
Innerchr18:53341300..53555100hg18UCSC Ensembl
Innerchr18:53341300..53555100hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38213801
hg19213801
hg18213801
hg17213801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751777
Supporting Variants
SamplesBEC_301
Known GenesATP8B1, FECH, LOC100505549, NARS
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988422
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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