A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25778367



Internal ID19168814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141585130..141656962hg38UCSC Ensembl
Innerchr2:142342699..142414531hg19UCSC Ensembl
Innerchr2:142059169..142131001hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3871833
hg1971833
hg1871833
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893470
Supporting Variants
Samples
Known GenesLRP1B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=33
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25778367
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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