A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985341



Internal ID12636482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:33205233..33237533hg38UCSC Ensembl
Innerchr20:31793039..31825339hg19UCSC Ensembl
Innerchr20:31256700..31289000hg18UCSC Ensembl
Innerchr20:31256700..31289000hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3832301
hg1932301
hg1832301
hg1732301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751912
Supporting Variants
SamplesSPC_147
Known GenesBPIFA1, BPIFA3, BPIFA4P
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985341
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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