A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12498947



Internal ID5230642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106376509..106381487hg38UCSC Ensembl
Innerchr6:106376510..106381487hg38UCSC Ensembl
Outerchr6:106376509..106381488hg38UCSC Ensembl
chr6:106824384..106829362hg19UCSC Ensembl
Innerchr6:106824385..106829362hg19UCSC Ensembl
Outerchr6:106824384..106829363hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384979
hg194979
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610276
Supporting Variants
SamplesNA18626
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12498947
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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