A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672203



Internal ID9591622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109919582..109924580hg38UCSC Ensembl
chr4:110840738..110845736hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg384999
hg194999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5942445, essv5879865, essv5874597, essv6023896, essv6479575, essv5440869, essv5611082, essv6451169, essv5957999, essv6573650, essv5786059, essv5583856, essv6315100, essv5426225, essv5767004, essv5644496, essv5990404, essv6592526, essv5807504, essv6566129, essv5623264, essv5579027, essv5413957, essv6299855, essv5545057
SamplesNA19701, NA19055, NA19355, NA19315, NA19198, NA19197, NA19457, NA18498, NA20287, NA19904, NA19130, NA19445, NA19985, NA18867, NA11993, NA19247, NA19347, NA19453, NA19256, NA18517, NA19444, NA19334, NA20348, NA19430, NA19346
Known GenesEGF
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672203
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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