A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980304



Internal ID12978181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100463200..100515885hg38UCSC Ensembl
Innerchr10:102222957..102275642hg19UCSC Ensembl
Innerchr10:102212947..102265632hg18UCSC Ensembl
Innerchr10:102212947..102265632hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg3852686
hg1952686
hg1852686
hg1752686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34217
Supporting Variants
SamplesNA07029
Known GenesSEC31B, WNT8B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980304
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