A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179420



Internal ID3398214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4255286..4256472hg38UCSC Ensembl
Innerchr6:4255289..4256469hg38UCSC Ensembl
Outerchr6:4255283..4256475hg38UCSC Ensembl
chr6:4255520..4256706hg19UCSC Ensembl
Innerchr6:4255523..4256703hg19UCSC Ensembl
Outerchr6:4255517..4256709hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg381187
hg191187
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607943
Supporting Variants
SamplesHG03048
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179420
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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