A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11408967



Internal ID1410783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41994980..41997580hg38UCSC Ensembl
Innerchr4:41995000..41997560hg38UCSC Ensembl
Outerchr4:41994960..41997600hg38UCSC Ensembl
chr4:41996997..41999597hg19UCSC Ensembl
Innerchr4:41997017..41999577hg19UCSC Ensembl
Outerchr4:41996977..41999617hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600345
Supporting Variants
SamplesHG02676
Known GenesSLC30A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11408967
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