A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982739



Internal ID12628789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6781379..7153548hg38UCSC Ensembl
Innerchr8:6638900..7011070hg19UCSC Ensembl
Innerchr8:6626310..6998480hg18UCSC Ensembl
Innerchr8:6626310..6998480hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38372170
hg19372171
hg18372171
hg17372171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752262
Supporting Variants
SamplesBEC_586
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFT1P, DEFT1P2, LOC100652791, XKR5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982739
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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