A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751558



Internal ID12985110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35176198..35522700hg38UCSC Ensembl
Innerchr16:34410569..34757071hg19UCSC Ensembl
Innerchr16:34268070..34614572hg18UCSC Ensembl
Innerchr16:34268070..34614572hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38346503
hg19346503
hg18346503
hg17346503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117e55
Supporting Variantsessv6983248, essv6983247, essv6986381
SamplesBEC_559
Known GenesLOC100130700, LOC146481, LOC283914
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)esv2751558
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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