A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659159



Internal ID9925264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56673894..56678494hg38UCSC Ensembl
Outerchr4:56673737..56678647hg38UCSC Ensembl
Innerchr4:57540060..57544660hg19UCSC Ensembl
Outerchr4:57539903..57544813hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384911
hg194911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5556220, essv5557195, essv6169584, essv6048636, essv6333488, essv5542690, essv6299714, essv5786777, essv5519775, essv6223834, essv5610726, essv6561046, essv5510486, essv6283567
SamplesNA19664, NA18486, NA18489, NA19198, NA19197, NA20287, NA19681, NA19130, NA19385, NA19247, NA19236, NA19395, NA19439, NA19468
Known GenesHOPX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659159
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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