A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628857



Internal ID6668998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24141967..24142548hg38UCSC Ensembl
Innerchr12:24142220..24142295hg38UCSC Ensembl
Outerchr12:24141714..24142801hg38UCSC Ensembl
chr12:24294901..24295482hg19UCSC Ensembl
Innerchr12:24295154..24295229hg19UCSC Ensembl
Outerchr12:24294648..24295735hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14410968, essv14410965, essv14410969, essv14410970, essv14410962, essv14410964, essv14410967, essv14410963, essv14410966
SamplesNA18870, HG03265, HG02433, NA19147, NA19700, NA18522, HG03224, HG02953, NA18881
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628857
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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