A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676306



Internal ID9942411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207667717..207672469hg38UCSC Ensembl
chr1:207841062..207845814hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384753
hg194753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5530534, essv6282346, essv6318218, essv5498735, essv5967199, essv5467214, essv6112182, essv5792049, essv5745450, essv6480705, essv5451540, essv5533488, essv5936278, essv5641703, essv5624879, essv5952317, essv6281906, essv6225132, essv5980883, essv5404773, essv5447295, essv5812914, essv6045348, essv6226279, essv5927962, essv6183148, essv6508263, essv6561930, essv6366416, essv6034255, essv5697961, essv5627045
SamplesNA18502, NA18510, NA19374, HG00641, NA19373, NA19379, NA19201, NA19382, HG01365, NA20291, NA19404, NA18868, NA19385, HG01048, NA20342, NA19209, NA18867, NA19707, NA18856, NA18853, NA19099, NA20296, NA19375, NA19390, NA19321, NA18517, NA19470, NA19376, NA19093, NA18873, NA19900, NA19346
Known GenesCR1L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676306
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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