A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637682



Internal ID7024472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3973074..3977102hg38UCSC Ensembl
chr16:4023075..4027103hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384029
hg194029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15363329, essv15363324, essv15363328, essv15363326, essv15363325, essv15363327
SamplesHG01795, NA20771, HG00158, NA18617, HG01572, HG01770
Known GenesADCY9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637682
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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