A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600563



Internal ID6987605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55796598..55802469hg38UCSC Ensembl
Innerchr4:55796599..55802469hg38UCSC Ensembl
Outerchr4:55796598..55802470hg38UCSC Ensembl
chr4:56662764..56668635hg19UCSC Ensembl
Innerchr4:56662765..56668635hg19UCSC Ensembl
Outerchr4:56662764..56668636hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385872
hg195872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11440334, essv11440337, essv11440338, essv11440336, essv11440335
SamplesNA19089, NA20759, NA18748, HG00533, HG00437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600563
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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