A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988379



Internal ID12973074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12145208..12702326hg38UCSC Ensembl
Innerchr8:12002717..12559835hg19UCSC Ensembl
Innerchr8:12040126..12604206hg18UCSC Ensembl
Innerchr8:12040126..12604206hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38557119
hg19557119
hg18564081
hg17564081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752199
Supporting Variants
SamplesBEC_375
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988379
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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