A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11434678



Internal ID1990184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53173493..53208358hg38UCSC Ensembl
chr4:54039660..54074525hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3834866
hg1934866
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600517
Supporting Variants
SamplesHG01847
Known GenesSCFD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11434678
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