A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981239



Internal ID12973027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:82685735..82750835hg38UCSC Ensembl
Innerchr16:82719340..82784440hg19UCSC Ensembl
Innerchr16:81276841..81341941hg18UCSC Ensembl
Innerchr16:81276841..81341941hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3865101
hg1965101
hg1865101
hg1765101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751616
Supporting Variants
SamplesBEC_371
Known GenesCDH13, MIR8058
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981239
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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