A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10846232



Internal ID3410019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215962745..215963491hg38UCSC Ensembl
Innerchr2:215962796..215963440hg38UCSC Ensembl
Outerchr2:215962694..215963542hg38UCSC Ensembl
chr2:216827468..216828214hg19UCSC Ensembl
Innerchr2:216827519..216828163hg19UCSC Ensembl
Outerchr2:216827417..216828265hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594284
Supporting Variants
SamplesHG03054
Known GenesMREG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10846232
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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