A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638644



Internal ID6678741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53058064..53061156hg38UCSC Ensembl
Innerchr16:53058073..53061148hg38UCSC Ensembl
Outerchr16:53058056..53061165hg38UCSC Ensembl
chr16:53091976..53095068hg19UCSC Ensembl
Innerchr16:53091985..53095060hg19UCSC Ensembl
Outerchr16:53091968..53095077hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383093
hg193093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv521e214
Supporting Variantsessv15478718, essv15478720, essv15478719, essv15478721
SamplesHG00182, NA20904, NA21102, HG04171
Known GenesCHD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638644
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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