A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751557



Internal ID12985109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35029228..35522700hg38UCSC Ensembl
Innerchr16:34263599..34757071hg19UCSC Ensembl
Innerchr16:34121100..34614572hg18UCSC Ensembl
Innerchr16:34121100..34614572hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38493473
hg19493473
hg18493473
hg17493473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981191, essv6981190, essv6981192
SamplesBEC_362
Known GenesLOC100130700, LOC146481, LOC283914, UBE2MP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751557
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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