A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694089



Internal ID14694625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49130515..49132313hg38UCSC Ensembl
Innerchr3:49131313..49131515hg38UCSC Ensembl
Outerchr3:49129515..49133313hg38UCSC Ensembl
chr3:49167948..49169746hg19UCSC Ensembl
Innerchr3:49168746..49168948hg19UCSC Ensembl
Outerchr3:49166948..49170746hg19UCSC Ensembl
chr3:49142952..49144750hg18UCSC Ensembl
Innerchr3:49143952..49143750hg18UCSC Ensembl
Outerchr3:49141952..49145750hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3340652
Supporting Variants
SamplesNA19239
Known GenesLAMB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694089
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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