A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637558



Internal ID7024350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:238470..242038hg38UCSC Ensembl
Innerchr16:238970..241538hg38UCSC Ensembl
Outerchr16:237470..243038hg38UCSC Ensembl
chr16:288469..292037hg19UCSC Ensembl
Innerchr16:288969..291537hg19UCSC Ensembl
Outerchr16:287469..293037hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383569
hg193569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15355154, essv15355161, essv15355163, essv15355159, essv15355160, essv15355157, essv15355156, essv15355162, essv15355155, essv15355158
SamplesNA20891, NA20864, NA20863, NA21108, HG04195, HG03730, HG02494, HG03920, HG03916, HG04061
Known GenesITFG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637558
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer