A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637560



Internal ID7024352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:246387..250231hg38UCSC Ensembl
Innerchr16:246887..249731hg38UCSC Ensembl
Outerchr16:245387..251231hg38UCSC Ensembl
chr16:296386..300230hg19UCSC Ensembl
Innerchr16:296886..299730hg19UCSC Ensembl
Outerchr16:295386..301230hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383845
hg193845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15355176, essv15355181, essv15355185, essv15355187, essv15355186, essv15355188, essv15355182, essv15355180, essv15355177, essv15355178, essv15355193, essv15355169, essv15355183, essv15355192, essv15355168, essv15355171, essv15355179, essv15355190, essv15355174, essv15355175, essv15355172, essv15355189, essv15355170, essv15355191, essv15355173, essv15355184
SamplesNA19394, HG03069, NA19374, HG03082, NA20320, NA19119, HG03578, NA19457, NA19038, HG01893, HG03363, NA19347, HG02322, NA20126, HG03311, NA18856, NA19320, HG03046, NA19160, NA19035, NA19439, HG03304, NA19818, HG02971, HG03410, NA19312
Known GenesITFG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637560
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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