A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983983



Internal ID12977479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:86038784..86137158hg38UCSC Ensembl
Innerchr13:86612919..86711293hg19UCSC Ensembl
Innerchr13:85510920..85609294hg18UCSC Ensembl
Innerchr13:85510920..85609294hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3898375
hg1998375
hg1898375
hg1798375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751155
Supporting Variants
SamplesBEC_74
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983983
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer