A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893470



Internal ID19184290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141585130..141656962hg38UCSC Ensembl
Outerchr2:141581478..141656962hg38UCSC Ensembl
Innerchr2:142342699..142414531hg19UCSC Ensembl
Outerchr2:142339047..142414531hg19UCSC Ensembl
Innerchr2:142059169..142131001hg18UCSC Ensembl
Outerchr2:142055517..142131001hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3875485
hg1975485
hg1875485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25781296, essv25778406, essv25779142, essv25778367
Samples
Known GenesLRP1B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893470
Frequency
Sample Size3017
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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