A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6061670



Internal ID8896801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19551542..19555093hg38UCSC Ensembl
Outerchr12:19551385..19555246hg38UCSC Ensembl
Innerchr12:19704476..19708027hg19UCSC Ensembl
Outerchr12:19704319..19708180hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg383862
hg193862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669167
Supporting Variants
SamplesHG00345
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6061670
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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