A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5399707



Internal ID8377110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43630592..43632905hg38UCSC Ensembl
chr6:43598329..43600642hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382314
hg192314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675471
Supporting Variants
SamplesNA19398
Known GenesMAD2L1BP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5399707
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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