A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12515966



Internal ID2517782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117920616..117923857hg38UCSC Ensembl
Innerchr6:117920639..117923835hg38UCSC Ensembl
Outerchr6:117920594..117923880hg38UCSC Ensembl
chr6:118241779..118245020hg19UCSC Ensembl
Innerchr6:118241802..118244998hg19UCSC Ensembl
Outerchr6:118241757..118245043hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg383242
hg193242
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610502
Supporting Variants
SamplesNA19003
Known GenesSLC35F1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12515966
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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