A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678204



Internal ID9597623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81820807..81820950hg38UCSC Ensembl
chr16:81854412..81854555hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5469312, essv6504744, essv5701707, essv6006074, essv6101379, essv6390397, essv5442447, essv5805226, essv6067658, essv5573962, essv6086678, essv5512020, essv5990530, essv5791562, essv5582953, essv6191285, essv6505774, essv5897770, essv6270444, essv6485408, essv5670926, essv6147057
SamplesNA19445, HG00182, NA19081, HG00577, HG01488, NA18963, HG01101, HG00242, HG00638, NA19396, NA20754, NA19082, HG00147, NA20344, NA18977, NA19901, NA18987, HG00595, NA19078, NA19452, HG00142, NA19087
Known GenesPLCG2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678204
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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