A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441238



Internal ID5443054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28841240..28861827hg38UCSC Ensembl
Innerchr16:28841740..28861327hg38UCSC Ensembl
Outerchr16:28840240..28862827hg38UCSC Ensembl
chr16:28852561..28873148hg19UCSC Ensembl
Innerchr16:28853061..28872648hg19UCSC Ensembl
Outerchr16:28851561..28874148hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3820588
hg1920588
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638346
Supporting Variants
SamplesHG02655
Known GenesMIR4721, TUFM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441238
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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