A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12343748



Internal ID2619180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48129107..48133132hg38UCSC Ensembl
Innerchr6:48129108..48133132hg38UCSC Ensembl
Outerchr6:48129107..48133133hg38UCSC Ensembl
chr6:48096843..48100868hg19UCSC Ensembl
Innerchr6:48096844..48100868hg19UCSC Ensembl
Outerchr6:48096843..48100869hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg384026
hg194026
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608910
Supporting Variants
SamplesHG02317
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12343748
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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