A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638382



Internal ID7025168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30071884..30074062hg38UCSC Ensembl
Innerchr16:30071951..30073996hg38UCSC Ensembl
Outerchr16:30071818..30074129hg38UCSC Ensembl
chr16:30083205..30085383hg19UCSC Ensembl
Innerchr16:30083272..30085317hg19UCSC Ensembl
Outerchr16:30083139..30085450hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382179
hg192179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15441759, essv15441751, essv15441754, essv15441755, essv15441753, essv15441758, essv15441756, essv15441752, essv15441750, essv15441757
SamplesHG03168, HG01170, HG02946, HG01956, HG02484, NA20351, HG02558, HG03279, HG02053, HG02013
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638382
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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