A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988577



Internal ID12628788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6781503..7153553hg38UCSC Ensembl
Innerchr8:6639024..7011075hg19UCSC Ensembl
Innerchr8:6626434..6998485hg18UCSC Ensembl
Innerchr8:6626434..6998485hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38372051
hg19372052
hg18372052
hg17372052
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988577
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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