A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788948



Internal ID19171964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244369514..244407083hg38UCSC Ensembl
Innerchr1:244532816..244570385hg19UCSC Ensembl
Innerchr1:242599439..242637008hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3837570
hg1937570
hg1837570
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891292
Supporting Variants
Samples
Known GenesC1orf100
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788948
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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