A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659417



Internal ID9578836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68508259..68625553hg38UCSC Ensembl
Outerchr4:68508225..68625588hg38UCSC Ensembl
Innerchr4:69373977..69491271hg19UCSC Ensembl
Outerchr4:69373943..69491306hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38117364
hg19117364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv951e199
Supporting Variantsessv6358039
SamplesNA18627
Known GenesUGT2B17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659417
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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