A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5671794



Internal ID8649197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8210659..8212324hg38UCSC Ensembl
chr4:8212386..8214051hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381666
hg191666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658523
Supporting Variants
SamplesNA19711
Known GenesSH3TC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5671794
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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