A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5402127



Internal ID8821777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30019249..30026348hg38UCSC Ensembl
Outerchr17:30019212..30026398hg38UCSC Ensembl
Innerchr17:28346267..28353366hg19UCSC Ensembl
Outerchr17:28346230..28353416hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg387187
hg197187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670816
Supporting Variants
SamplesHG00263
Known GenesEFCAB5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5402127
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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