A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12535809



Internal ID5350402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:124847962..124849331hg38UCSC Ensembl
Innerchr6:124847963..124849330hg38UCSC Ensembl
Outerchr6:124847961..124849332hg38UCSC Ensembl
chr6:125169108..125170477hg19UCSC Ensembl
Innerchr6:125169109..125170476hg19UCSC Ensembl
Outerchr6:125169107..125170478hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg381370
hg191370
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610674
Supporting Variants
SamplesNA18879
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12535809
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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