A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792249



Internal ID18815791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46239982..46370665hg38UCSC Ensembl
Innerchr10:47611218..47741882hg19UCSC Ensembl
Innerchr10:47081224..47211888hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38130684
hg19130665
hg18130665
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891801
Supporting Variants
Samples
Known GenesANTXRL, ANTXRLP1, FAM25B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=58
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792249
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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