A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637969



Internal ID7024756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12696949..12699960hg38UCSC Ensembl
Innerchr16:12696949..12699960hg38UCSC Ensembl
Outerchr16:12696449..12700460hg38UCSC Ensembl
chr16:12790806..12793817hg19UCSC Ensembl
Innerchr16:12790806..12793817hg19UCSC Ensembl
Outerchr16:12790306..12794317hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg383012
hg193012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15377507, essv15377505, essv15377502, essv15377506, essv15377503, essv15377504
SamplesHG02600, NA20846, HG02603, HG03884, HG03703, HG01976
Known GenesCPPED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637969
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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