A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675471



Internal ID9594890
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5399707, essv6380958
SamplesNA19398, NA19332
Known GenesMAD2L1BP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675471
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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