A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12982070



Internal ID2983886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139505307..139545353hg38UCSC Ensembl
chr7:139190053..139230099hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3840047
hg1940047
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615216
Supporting Variants
SamplesHG02890
Known GenesCLEC2L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12982070
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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