A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677565



Internal ID9596984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79175456..79176701hg38UCSC Ensembl
chr10:80935213..80936458hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg381246
hg191246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6519447, essv6336405, essv6223670, essv6204351
SamplesHG00187, HG00268, HG00324, NA20804
Known GenesZMIZ1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677565
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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