A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5684401



Internal ID8661804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56763085..56780789hg38UCSC Ensembl
Outerchr12:56763048..56780839hg38UCSC Ensembl
Innerchr12:57156869..57174573hg19UCSC Ensembl
Outerchr12:57156832..57174623hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3817792
hg1917792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667772
Supporting Variants
SamplesNA19678
Known GenesHSD17B6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5684401
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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