A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14520142



Internal ID6319683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68702673..68709720hg38UCSC Ensembl
Innerchr12:68703173..68709220hg38UCSC Ensembl
Outerchr12:68701673..68710720hg38UCSC Ensembl
chr12:69096453..69103500hg19UCSC Ensembl
Innerchr12:69096953..69103000hg19UCSC Ensembl
Outerchr12:69095453..69104500hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg387048
hg197048
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629855
Supporting Variants
SamplesNA19917
Known GenesNUP107
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14520142
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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