A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675432



Internal ID9594851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83442426..83442659hg38UCSC Ensembl
chr4:84363579..84363812hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6578139, essv6041310, essv6183914, essv6531559, essv5496053, essv6078762
SamplesNA18523, NA19239, NA19395, NA19138, NA19116, NA19240
Known GenesHELQ
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675432
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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