A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6344228



Internal ID9521677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139547653..139553917hg38UCSC Ensembl
chr5:138927238..138933502hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386265
hg196265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665301
Supporting Variants
SamplesNA19009
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6344228
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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