A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751857



Internal ID12638723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:242317308..242730382hg17UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg17413075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv165e55
Supporting Variantsessv6982788, essv6989684, essv6982790, essv6982789
SamplesBEC_593
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751857
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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