A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670135



Internal ID9936240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130859672..130859948hg38UCSC Ensembl
chr3:130578516..130578792hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5872609, essv6318026, essv6346020, essv5572752, essv6130360, essv5545223
SamplesHG00524, HG00501, NA18611, HG00512, NA18593, NA18564
Known GenesATP2C1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670135
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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