A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638398



Internal ID6678496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31388377..31405192hg38UCSC Ensembl
Innerchr16:31388527..31405042hg38UCSC Ensembl
Outerchr16:31388227..31405342hg38UCSC Ensembl
chr16:31399698..31416513hg19UCSC Ensembl
Innerchr16:31399848..31416363hg19UCSC Ensembl
Outerchr16:31399548..31416663hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3816816
hg1916816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15441842, essv15441840, essv15441841
SamplesHG03291, NA20299, NA19108
Known GenesITGAD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638398
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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