A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982056



Internal ID12627695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4119388..4208090hg38UCSC Ensembl
Innerchr16:4169389..4258091hg19UCSC Ensembl
Innerchr16:4109390..4198092hg18UCSC Ensembl
Innerchr16:4109390..4198092hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3888703
hg1988703
hg1888703
hg1788703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751608
Supporting Variants
SamplesBEC_516
Known GenesSRL
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982056
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer