A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791237



Internal ID18814538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:33915559..34483233hg38UCSC Ensembl
Innerchr7:33955171..34522845hg19UCSC Ensembl
Innerchr7:33921696..34489370hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38567675
hg19567675
hg18567675
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891097
Supporting Variants
Samples
Known GenesBMPER, NPSR1-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=123
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791237
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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