A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752040



Internal ID12638906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:167893121..168125021hg38UCSC Ensembl
Innerchr4:168814272..169046172hg19UCSC Ensembl
Innerchr4:169050847..169282747hg18UCSC Ensembl
Innerchr4:169189002..169420902hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38231901
hg19231901
hg18231901
hg17231901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv194e55
Supporting Variantsessv6982484, essv6989633
SamplesBEC_452
Known GenesANXA10
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)esv2752040
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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