A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499071



Internal ID609274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106713127..106725941hg38UCSC Ensembl
Innerchr6:106713277..106725791hg38UCSC Ensembl
Outerchr6:106712977..106726091hg38UCSC Ensembl
chr6:107161002..107173816hg19UCSC Ensembl
Innerchr6:107161152..107173666hg19UCSC Ensembl
Outerchr6:107160852..107173966hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3812815
hg1912815
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610284
Supporting Variants
SamplesHG00266
Known GenesLOC100422737
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499071
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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