A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665968



Internal ID9585387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111285153..111293468hg38UCSC Ensembl
chr1:111827775..111836090hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388316
hg198316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6418400, essv5637714, essv5888928, essv6029540, essv6108480, essv6346019
SamplesHG00418, NA18952, NA18550, NA19074, NA18597, NA18574
Known GenesCHIA, CHIAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665968
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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