A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981685



Internal ID12972523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:10123195..10268676hg38UCSC Ensembl
Innerchr4:10124819..10270300hg19UCSC Ensembl
Innerchr4:9733917..9879398hg18UCSC Ensembl
Innerchr4:9801088..9946569hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38145482
hg19145482
hg18145482
hg17145482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752053
Supporting Variants
SamplesBEC_319
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981685
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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