A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669063



Internal ID9935168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:183087024..183088583hg38UCSC Ensembl
Outerchr4:183086849..183088771hg38UCSC Ensembl
Innerchr4:184008177..184009736hg19UCSC Ensembl
Outerchr4:184008002..184009924hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5588063, essv5448878, essv6549434
SamplesHG00542, HG00534, HG00684
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669063
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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