A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666830



Internal ID9586249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:17591392..17593723hg38UCSC Ensembl
Outerchr4:17591235..17593884hg38UCSC Ensembl
Innerchr4:17593015..17595346hg19UCSC Ensembl
Outerchr4:17592858..17595507hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg382650
hg192650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5617580, essv6262820
SamplesHG00476, HG00625
Known GenesLAP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666830
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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