A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668836



Internal ID9934941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190340695..190342632hg38UCSC Ensembl
chr1:190309825..190311762hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg381938
hg191938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6218743, essv6498970, essv5687780, essv6038771, essv5508304, essv6295384, essv5823327, essv5547183
SamplesNA18599, NA18595, HG00610, NA18949, NA19075, HG00704, NA18961, NA18984
Known GenesBRINP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668836
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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