A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979542



Internal ID12980331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40875777..40998133hg38UCSC Ensembl
Innerchr5:40875879..40998235hg19UCSC Ensembl
Innerchr5:40911636..41033992hg18UCSC Ensembl
Innerchr5:40911636..41033992hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38122357
hg19122357
hg18122357
hg17122357
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979542
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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