A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659518



Internal ID9925623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205282381..205283340hg38UCSC Ensembl
chr1:205251509..205252468hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38960
hg19960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5498708, essv5455850, essv6221075, essv6183707, essv6090557, essv5824188, essv5918802, essv6470296, essv5627128, essv5989090, essv6147983, essv5776199
SamplesNA19704, NA19819, NA19920, NA19901, NA19921, NA19449, NA18499, NA18523, NA19834, NA19376, NA19711, NA19430
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659518
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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