A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779204



Internal ID18822529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71014911..71022452hg38UCSC Ensembl
Innerchr1:71480594..71488135hg19UCSC Ensembl
Innerchr1:71253182..71260723hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg387542
hg197542
hg187542
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893657
Supporting Variants
Samples
Known GenesPTGER3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779204
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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