A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5685707



Internal ID8917385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138537753..138538361hg38UCSC Ensembl
chr5:137873442..137874050hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677157
Supporting Variants
SamplesHG00419
Known GenesETF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5685707
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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