A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751777



Internal ID12638643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:57515803..57805084hg38UCSC Ensembl
Innerchr18:55183035..55472316hg19UCSC Ensembl
Innerchr18:53334033..53623314hg18UCSC Ensembl
Innerchr18:53334033..53623314hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38289282
hg19289282
hg18289282
hg17289282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981578, essv6981580, essv6988422, essv6981577, essv6981579
SamplesBEC_301
Known GenesATP8B1, FECH, LOC100505549, NARS
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751777
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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