A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667758



Internal ID9587177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4974059..4976207hg38UCSC Ensembl
chr19:4974070..4976218hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382149
hg192149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv616e199
Supporting Variantsessv5567376, essv6390191, essv5513373, essv5398574, essv6165840
SamplesNA18565, NA18940, NA18550, HG00590, NA18613
Known GenesKDM4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667758
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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