A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657571



Internal ID9576990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89647564..89648404hg38UCSC Ensembl
chr16:89713972..89714812hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5964629, essv6593381, essv5965616, essv5986768, essv5805137, essv6417907, essv6177849, essv5921937, essv6506617, essv6519638
SamplesNA18861, NA19404, HG00334, NA19372, NA06986, HG01060, NA20518, NA19434, HG01462, NA19779
Known GenesCHMP1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657571
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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