A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666983



Internal ID9586402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166222650..166222992hg38UCSC Ensembl
chr2:167079160..167079502hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5565681, essv5999498, essv6525329, essv5609338, essv6263640, essv5618418, essv5578061, essv6340898, essv5421659, essv5718501, essv6494189, essv5596522, essv5914248, essv6079933, essv6347518
SamplesNA19457, NA19313, HG01067, HG01048, NA19462, NA18907, NA19114, NA19712, NA19434, NA19331, NA19334, NA19428, NA19468, NA19093, NA19129
Known GenesSCN9A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666983
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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