A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663451



Internal ID9582870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:938037..938669hg38UCSC Ensembl
chr1:873417..874049hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38633
hg19633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5748399, essv5733502, essv6117771, essv5957539
SamplesHG00543, NA18544, NA19012, NA19074
Known GenesSAMD11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663451
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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