A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12574729



Internal ID3373377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143548189..143551306hg38UCSC Ensembl
Innerchr6:143548189..143551306hg38UCSC Ensembl
Outerchr6:143547998..143551515hg38UCSC Ensembl
chr6:143869326..143872443hg19UCSC Ensembl
Innerchr6:143869326..143872443hg19UCSC Ensembl
Outerchr6:143869135..143872652hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg383118
hg193118
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611096
Supporting Variants
SamplesHG03022
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12574729
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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