A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978776



Internal ID12632401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35233128..35522728hg38UCSC Ensembl
Innerchr16:34467499..34757099hg19UCSC Ensembl
Innerchr16:34325000..34614600hg18UCSC Ensembl
Innerchr16:34325000..34614600hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38289601
hg19289601
hg18289601
hg17289601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34629
Supporting Variants
SamplesNA12239
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978776
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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