A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667446



Internal ID9933551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56189811..56197600hg38UCSC Ensembl
Outerchr5:56189749..56197670hg38UCSC Ensembl
Innerchr5:55485638..55493427hg19UCSC Ensembl
Outerchr5:55485576..55493497hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg387922
hg197922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5894045
SamplesHG01437
Known GenesANKRD55
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667446
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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