A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665901



Internal ID9932006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159150261..159155787hg38UCSC Ensembl
chr1:159120051..159125577hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg385527
hg195527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5833394, essv5593917, essv5503193, essv5861433, essv5557523, essv5961062, essv6108824, essv6314669, essv6495355
SamplesHG01359, NA18519, NA19197, NA19372, HG01187, NA19461, NA19452, NA20281, NA19360
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665901
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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