A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5954802



Internal ID9920258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5057578..5061111hg38UCSC Ensembl
Outerchr17:5057541..5061161hg38UCSC Ensembl
Innerchr17:4960873..4964406hg19UCSC Ensembl
Outerchr17:4960836..4964456hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg383621
hg193621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660154
Supporting Variants
SamplesNA20819
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5954802
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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