A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657590



Internal ID9577009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93747286..93748006hg38UCSC Ensembl
chr1:94212842..94213562hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38721
hg19721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6504554, essv6398757, essv6312513, essv5817843, essv5685621, essv6452498, essv6323367, essv6513865, essv5563386, essv6152017, essv5671321, essv5485047, essv6036700, essv5551363, essv5973841, essv6013302, essv6381912, essv6225633, essv5741299, essv6409293, essv6115976
SamplesNA19445, NA20516, NA19359, NA19438, NA19428, NA19443, NA19213, NA19172, NA19372, HG01170, NA18858, NA19382, NA19462, NA19235, NA19116, NA19452, HG01108, HG01462, NA19381, NA19468, NA19439
Known GenesBCAR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657590
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer