A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678664



Internal ID9944769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44017699..44025055hg38UCSC Ensembl
Outerchr4:44017328..44025425hg38UCSC Ensembl
Innerchr4:44019716..44027072hg19UCSC Ensembl
Outerchr4:44019345..44027442hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg388098
hg198098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv938e199
Supporting Variantsessv6465338, essv5529186, essv5418658, essv5474481, essv5822948, essv6132848, essv5931243, essv6190827, essv6214896, essv5485587, essv6423987, essv5786535, essv6222187, essv6375198, essv5453888, essv5712155, essv5885563
SamplesNA19700, NA19819, NA20346, NA20356, NA20278, NA20127, NA19908, NA20126, NA20299, NA20282, NA19834, NA20281, NA19818, NA19713, NA19711, NA19900, NA20322
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678664
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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