A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12323093



Internal ID2324909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39049965..39052515hg38UCSC Ensembl
Innerchr6:39049965..39052515hg38UCSC Ensembl
Outerchr6:39049776..39052741hg38UCSC Ensembl
chr6:39017741..39020291hg19UCSC Ensembl
Innerchr6:39017741..39020291hg19UCSC Ensembl
Outerchr6:39017552..39020517hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382551
hg192551
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608753
Supporting Variants
SamplesHG03166
Known GenesGLP1R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12323093
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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