A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12220177



Internal ID5021750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21361504..21366954hg38UCSC Ensembl
Innerchr6:21361504..21366954hg38UCSC Ensembl
Outerchr6:21361431..21367032hg38UCSC Ensembl
chr6:21361735..21367185hg19UCSC Ensembl
Innerchr6:21361735..21367185hg19UCSC Ensembl
Outerchr6:21361662..21367263hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385451
hg195451
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608308
Supporting Variants
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12220177
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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