A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6224515



Internal ID8993800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176823407..176823569hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38n/a
hg19n/a
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2675618
Supporting Variants
SamplesHG00590
Known GenesSLC34A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6224515
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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