A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752055



Internal ID12985607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106699096..106944814hg38UCSC Ensembl
Innerchr5:106034797..106280515hg19UCSC Ensembl
Innerchr5:106062696..106308414hg18UCSC Ensembl
Innerchr5:106062696..106308414hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38245719
hg19245719
hg18245719
hg17245719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982930, essv6982929
SamplesBEC_527
Known GenesLOC102467213
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)esv2752055
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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