A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982929



Internal ID12974533
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 StatusS
Merged Variantsesv2752055
Supporting Variants
SamplesBEC_527
Known GenesLOC102467213
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982929
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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