A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786430



Internal ID18814094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214859826..214991056hg38UCSC Ensembl
Innerchr2:215724550..215855780hg19UCSC Ensembl
Innerchr2:215432795..215564025hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38131231
hg19131231
hg18131231
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893553
Supporting Variants
Samples
Known GenesABCA12
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=30
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786430
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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