A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6216388



Internal ID9193791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66516498..66574671hg38UCSC Ensembl
Outerchr14:66516461..66574721hg38UCSC Ensembl
Innerchr14:66983216..67041389hg19UCSC Ensembl
Outerchr14:66983179..67041439hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3858261
hg1958261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671863
Supporting Variants
SamplesNA20538
Known GenesGPHN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6216388
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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