A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978044



Internal ID12978542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35233128..35526628hg38UCSC Ensembl
Innerchr16:34467499..34760999hg19UCSC Ensembl
Innerchr16:34325000..34618500hg18UCSC Ensembl
Innerchr16:34325000..34618500hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38293501
hg19293501
hg18293501
hg17293501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34829
Supporting Variants
SamplesNA10860
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978044
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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