A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786852



Internal ID19181681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:67403344..67519760hg38UCSC Ensembl
Innerchr2:67630476..67746892hg19UCSC Ensembl
Innerchr2:67483980..67600396hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38116417
hg19116417
hg18116417
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892581
Supporting Variants
Samples
Known GenesETAA1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=42
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786852
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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