A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5417579



Internal ID8394982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38255643..38259796hg38UCSC Ensembl
Outerchr8:38255486..38259949hg38UCSC Ensembl
Innerchr8:38113161..38117314hg19UCSC Ensembl
Outerchr8:38113004..38117467hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg384464
hg194464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658916
Supporting Variants
SamplesHG00252
Known GenesDDHD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5417579
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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