A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6014354



Internal ID8991757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177396406..177396568hg38UCSC Ensembl
chr5:176823407..176823569hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2675618
Supporting Variants
SamplesHG01550
Known GenesSLC34A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6014354
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