A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499516



Internal ID4424363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108125767..108126894hg38UCSC Ensembl
Innerchr6:108125817..108126844hg38UCSC Ensembl
Outerchr6:108125717..108126944hg38UCSC Ensembl
chr6:108446971..108448098hg19UCSC Ensembl
Innerchr6:108447021..108448048hg19UCSC Ensembl
Outerchr6:108446921..108448148hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381128
hg191128
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610313
Supporting Variants
SamplesHG03940
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499516
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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