A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6238348



Internal ID9488138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121677118..121690703hg38UCSC Ensembl
Outerchr12:121676961..121690856hg38UCSC Ensembl
Innerchr12:122115024..122128609hg19UCSC Ensembl
Outerchr12:122114867..122128762hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813896
hg1913896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658911
Supporting Variants
SamplesNA18961
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6238348
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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