A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982740



Internal ID12628787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6785599..7141698hg38UCSC Ensembl
Innerchr8:6643120..6999220hg19UCSC Ensembl
Innerchr8:6630530..6986630hg18UCSC Ensembl
Innerchr8:6630530..6986630hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38356100
hg19356101
hg18356101
hg17356101
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)essv6982740
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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