A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979543



Internal ID12980330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40890041..41000541hg38UCSC Ensembl
Innerchr5:40890143..41000643hg19UCSC Ensembl
Innerchr5:40925900..41036400hg18UCSC Ensembl
Innerchr5:40925900..41036400hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38110501
hg19110501
hg18110501
hg17110501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35077
Supporting Variants
SamplesNA18566
Known GenesC7, MROH2B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979543
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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