A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34994



Internal ID12644344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:25057265..25125931hg38UCSC Ensembl
Innerchr16:25068586..25137252hg19UCSC Ensembl
Innerchr16:24976087..25044753hg18UCSC Ensembl
Innerchr16:24976087..25044753hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3868667
hg1968667
hg1868667
hg1768667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986028, essv6980579
SamplesNA19211
Known GenesLCMT1
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)esv34994
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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