A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15362842



Internal ID5364658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3021600..3057596hg38UCSC Ensembl
chr16:3071601..3107597hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3835997
hg1935997
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637645
Supporting Variants
SamplesHG02282
Known GenesCCDC64B, HCFC1R1, LOC100128770, MMP25, THOC6, TNFRSF12A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15362842
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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