A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750842



Internal ID12637708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91891224..92114118hg38UCSC Ensembl
Innerchr1:92356781..92579675hg19UCSC Ensembl
Innerchr1:92129369..92352263hg18UCSC Ensembl
Innerchr1:92068802..92291696hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38222895
hg19222895
hg18222895
hg17222895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988574, essv6982715, essv6988573, essv6986250, essv6982716
SamplesBEC_583
Known GenesBRDT, BTBD8, EPHX4, TGFBR3
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)esv2750842
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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