A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988862



Internal ID12983652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12362740..12624470hg38UCSC Ensembl
Innerchr8:12220249..12481979hg19UCSC Ensembl
Innerchr8:12264620..12526350hg18UCSC Ensembl
Innerchr8:12264620..12526350hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38261731
hg19261731
hg18261731
hg17261731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752201
Supporting Variants
SamplesSPC_189
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988862
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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