A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750884



Internal ID12637750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:14596940..14640481hg38UCSC Ensembl
Innerchr10:14638939..14682480hg19UCSC Ensembl
Innerchr10:14678945..14722486hg18UCSC Ensembl
Innerchr10:14678945..14722486hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3843542
hg1943542
hg1843542
hg1743542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981930, essv6981929
SamplesBEC_502
Known GenesFAM107B
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)esv2750884
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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