A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441246



Internal ID5443062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28973792..29014153hg38UCSC Ensembl
chr16:28985113..29025474hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3840362
hg1940362
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638351
Supporting Variants
SamplesHG00178
Known GenesLAT, SPNS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441246
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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