A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981008



Internal ID12625972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45722292..45771812hg38UCSC Ensembl
Innerchr20:44350931..44400451hg19UCSC Ensembl
Innerchr20:43784345..43833858hg18UCSC Ensembl
Innerchr20:43784345..43833858hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3849521
hg1949521
hg1849514
hg1749514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751916
Supporting Variants
SamplesBEC_336
Known GenesSPINT4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981008
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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