A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11440104



Internal ID1441920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55561652..55635750hg38UCSC Ensembl
chr4:56427819..56501917hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3874099
hg1974099
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600555
Supporting Variants
SamplesNA20759
Known GenesNMU, PDCL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11440104
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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