A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989633



Internal ID12627136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:167893121..167998490hg38UCSC Ensembl
Innerchr4:168814272..168919641hg19UCSC Ensembl
Innerchr4:169050847..169156216hg18UCSC Ensembl
Innerchr4:169189002..169294371hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38105370
hg19105370
hg18105370
hg17105370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752040
Supporting Variants
SamplesBEC_452
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989633
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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