A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673724



Internal ID9939829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195767655..195767778hg38UCSC Ensembl
Outerchr3:195767498..195767931hg38UCSC Ensembl
Innerchr3:195494526..195494649hg19UCSC Ensembl
Outerchr3:195494369..195494802hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6532256, essv5973880, essv6093640, essv5419281, essv6166175, essv5999431, essv6492091, essv5925961, essv6210775, essv6594660, essv6251466, essv6573770, essv6285337, essv5491455
SamplesHG01462, NA19399, NA20294, NA19190, NA19920, HG01488, NA18923, NA20317, HG01171, HG01390, NA19395, NA20341, NA19213, NA19463
Known GenesMUC4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673724
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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