A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989489



Internal ID12636481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:33179619..33237567hg38UCSC Ensembl
Innerchr20:31767425..31825373hg19UCSC Ensembl
Innerchr20:31231086..31289034hg18UCSC Ensembl
Innerchr20:31231086..31289034hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3857949
hg1957949
hg1857949
hg1757949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751912
Supporting Variants
SamplesSPC_147
Known GenesBPIFA1, BPIFA2, BPIFA3, BPIFA4P
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989489
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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