A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987443



Internal ID12630687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110085048..110198048hg38UCSC Ensembl
Innerchr2:110842625..110955625hg19UCSC Ensembl
Innerchr2:110199914..110312914hg18UCSC Ensembl
Innerchr2:110200000..110313000hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38113001
hg19113001
hg18113001
hg17113001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751815
Supporting Variants
SamplesBEC_730
Known GenesMALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987443
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