A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10710148



Internal ID981528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:150060193..150061661hg38UCSC Ensembl
Innerchr2:150060237..150061617hg38UCSC Ensembl
Outerchr2:150060149..150061705hg38UCSC Ensembl
chr2:150916707..150918175hg19UCSC Ensembl
Innerchr2:150916751..150918131hg19UCSC Ensembl
Outerchr2:150916663..150918219hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381469
hg191469
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592882
Supporting Variants
SamplesHG00610
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10710148
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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