A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984483



Internal ID12977060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:23997355..24225955hg38UCSC Ensembl
Innerchr15:24242502..24471102hg19UCSC Ensembl
Innerchr15:21793595..22022195hg18UCSC Ensembl
Innerchr15:21793595..22022195hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38228601
hg19228601
hg18228601
hg17228601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751512
Supporting Variants
SamplesBEC_711
Known GenesPWRN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984483
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