A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669122



Internal ID9935227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46096879..46097728hg38UCSC Ensembl
chr18:43676845..43677694hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv594e199
Supporting Variantsessv6177425, essv6460375, essv5873526, essv6593662, essv6443468, essv6233618, essv5951525, essv5425694, essv6135889, essv5748445, essv5554267
SamplesNA18940, NA18571, HG00543, HG00596, HG00704, NA18543, NA18636, HG00698, NA19063, NA19074, NA18620
Known GenesATP5A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669122
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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