A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671380



Internal ID9590799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10040009..10040244hg38UCSC Ensembl
chr16:10133866..10134101hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6533510, essv5556460, essv6298971, essv6496269, essv6320675, essv6003386, essv6189260, essv6013109, essv6352788, essv5585788, essv5662843, essv6179839, essv6492479, essv6128829, essv6249525, essv6496717, essv5888955, essv6275212, essv5672978, essv5465046, essv6443965
SamplesNA18964, NA20503, NA20785, NA20802, NA20800, NA07051, NA20521, NA20761, NA20757, NA20807, NA20765, NA12830, NA12777, NA20769, NA20795, NA18940, NA18538, NA18989, NA19064, HG00142, NA20502
Known GenesGRIN2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671380
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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