A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638994



Internal ID7025778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72060628..72077062hg38UCSC Ensembl
chr16:72094527..72110961hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3816435
hg1916435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv531e214
Supporting Variantsessv15515094, essv15515095, essv15515097, essv15515096, essv15515092, essv15515093
SamplesHG01485, HG02769, NA19197, HG01880, HG03442, NA18873
Known GenesHP, HPR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638994
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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