A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752262



Internal ID12639128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6781378..7153553hg38UCSC Ensembl
Innerchr8:6638899..7011075hg19UCSC Ensembl
Innerchr8:6626309..6998485hg18UCSC Ensembl
Innerchr8:6626309..6998485hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38372176
hg19372177
hg18372177
hg17372177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982738, essv6982741, essv6982740, essv6988577, essv6982739
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
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752262
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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