A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750906



Internal ID12637772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46412752..46606240hg38UCSC Ensembl
Innerchr10:46943377..47136996hg19UCSC Ensembl
Innerchr10:46363383..46557002hg18UCSC Ensembl
Innerchr10:46363383..46557002hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38193489
hg19193620
hg18193620
hg17193620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv22e55
Supporting Variantsessv6986311, essv6982983, essv6982984, essv6982982
SamplesBEC_531
Known GenesGPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
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)esv2750906
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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