A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13993783



Internal ID3995599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3217506..3222857hg38UCSC Ensembl
Innerchr11:3217507..3222857hg38UCSC Ensembl
Outerchr11:3217506..3222858hg38UCSC Ensembl
chr11:3238736..3244087hg19UCSC Ensembl
Innerchr11:3238737..3244087hg19UCSC Ensembl
Outerchr11:3238736..3244088hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg385352
hg195352
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625135
Supporting Variants
SamplesNA19756
Known GenesMRGPRG, MRGPRG-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13993783
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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