A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10291358



Internal ID293174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214297852..214300549hg38UCSC Ensembl
Innerchr1:214297852..214300549hg38UCSC Ensembl
Outerchr1:214297600..214300789hg38UCSC Ensembl
chr1:214471195..214473892hg19UCSC Ensembl
Innerchr1:214471195..214473892hg19UCSC Ensembl
Outerchr1:214470943..214474132hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382698
hg192698
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588786
Supporting Variants
SamplesNA19834
Known GenesSMYD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10291358
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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