A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656563



Internal ID9922668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234006691..234007436hg38UCSC Ensembl
chr1:234142437..234143182hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38746
hg19746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6474314, essv6248083, essv6163710, essv6403783, essv6289696, essv6067416, essv5641189, essv5860786, essv5983057, essv5971599, essv6068745
SamplesNA19904, NA19719, NA19385, NA19007, NA18856, NA19390, HG01551, NA19444, NA19472, NA19463, NA18577
Known GenesSLC35F3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656563
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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