A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606438



Internal ID6993374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117832900..117883054hg38UCSC Ensembl
Innerchr5:117832923..117883031hg38UCSC Ensembl
Outerchr5:117832877..117883077hg38UCSC Ensembl
chr5:117168595..117218749hg19UCSC Ensembl
Innerchr5:117168618..117218726hg19UCSC Ensembl
Outerchr5:117168572..117218772hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3850155
hg1950155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12032057, essv12032056
SamplesHG01323, NA19118
Known GenesLOC102467224
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606438
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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