A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12535821



Internal ID4641157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:124890205..124905350hg38UCSC Ensembl
Innerchr6:124890705..124904850hg38UCSC Ensembl
Outerchr6:124889205..124906350hg38UCSC Ensembl
chr6:125211351..125226496hg19UCSC Ensembl
Innerchr6:125211851..125225996hg19UCSC Ensembl
Outerchr6:125210351..125227496hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3815146
hg1915146
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610676
Supporting Variants
SamplesHG04173
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12535821
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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