A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662386



Internal ID9928491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145526563..145527917hg38UCSC Ensembl
chr4:146447715..146449069hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381355
hg191355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5426501, essv6376757, essv6180897, essv5729168, essv5833019, essv5560395, essv6088749, essv6322028, essv6399309, essv6254898
SamplesHG00592, HG00699, NA19777, NA18988, HG00589, HG00653, HG00436, HG01102, HG00704, NA19716
Known GenesSMAD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662386
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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