A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384251



Internal ID15231221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71545626..71547305hg38UCSC Ensembl
Innerchr12:71545725..71547306hg38UCSC Ensembl
Outerchr12:71545516..71547425hg38UCSC Ensembl
chr12:71939406..71941085hg19UCSC Ensembl
Innerchr12:71939505..71941086hg19UCSC Ensembl
Outerchr12:71939296..71941205hg19UCSC Ensembl
chr12:70225673..70227352hg18UCSC Ensembl
Innerchr12:70227353..70225772hg18UCSC Ensembl
Outerchr12:70225563..70227472hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381680
hg191680
hg181680
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808628
SamplesNA12878
Known GenesLGR5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384251
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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