A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12184501



Internal ID1982714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8432153..8434989hg38UCSC Ensembl
Innerchr6:8432153..8434989hg38UCSC Ensembl
Outerchr6:8431862..8435325hg38UCSC Ensembl
chr6:8432386..8435222hg19UCSC Ensembl
Innerchr6:8432386..8435222hg19UCSC Ensembl
Outerchr6:8432095..8435558hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg382837
hg192837
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608031
Supporting Variants
SamplesHG01844
Known GenesSLC35B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12184501
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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