A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13137093



Internal ID6948573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24909578..26990667hg38UCSC Ensembl
Innerchr8:24909762..26990483hg38UCSC Ensembl
Outerchr8:24909394..26990851hg38UCSC Ensembl
chr8:24767091..26848184hg19UCSC Ensembl
Innerchr8:24767275..26848000hg19UCSC Ensembl
Outerchr8:24766907..26848368hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg382081090
hg192081094
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616666
Supporting Variants
SamplesNA21129
Known GenesADRA1A, BNIP3L, CDCA2, DOCK5, DPYSL2, EBF2, GNRH1, KCTD9, MIR6841, MIR6876, NEFL, NEFM, PNMA2, PPP2R2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13137093
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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