A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752242



Internal ID12985794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16075727..16156540hg38UCSC Ensembl
Innerchr8:15933236..16014049hg19UCSC Ensembl
Innerchr8:15977607..16058420hg18UCSC Ensembl
Innerchr8:15977607..16058420hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3880814
hg1980814
hg1880814
hg1780814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv249e55
Supporting Variantsessv6989875, essv6983897, essv6983896, essv6983895
SamplesBEC_73
Known GenesMSR1
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)esv2752242
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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