A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663091



Internal ID9929196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168730524..168731665hg38UCSC Ensembl
chr2:169587034..169588175hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381142
hg191142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6080631, essv5787104, essv6060911, essv6364172, essv5522330, essv5583753, essv6122534, essv5718173, essv5680635, essv6460305, essv6482957, essv5461603, essv6120807, essv6163589, essv5762419, essv6300859, essv6207077
SamplesNA19055, HG01350, HG00589, HG00610, NA19062, NA18582, NA19079, NA19075, HG00619, HG00635, NA19000, HG00613, HG00734, HG00607, NA19248, NA18987, NA18622
Known GenesCERS6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663091
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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