A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984899



Internal ID12637004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111012360..111119530hg38UCSC Ensembl
Innerchr13:111664707..111771877hg19UCSC Ensembl
Innerchr13:110462708..110569878hg18UCSC Ensembl
Innerchr13:110462708..110569878hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38107171
hg19107171
hg18107171
hg17107171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751129
Supporting Variants
SamplesSPC_192
Known GenesARHGEF7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984899
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