A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751916



Internal ID12985468
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 StatusM
Merged Variants
Supporting Variantsessv6981008, essv6981009
SamplesBEC_336
Known GenesSPINT4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751916
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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