A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11634697



Internal ID1933032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140321551..140326167hg38UCSC Ensembl
Innerchr4:140321551..140326167hg38UCSC Ensembl
Outerchr4:140321296..140326433hg38UCSC Ensembl
chr4:141242705..141247321hg19UCSC Ensembl
Innerchr4:141242705..141247321hg19UCSC Ensembl
Outerchr4:141242450..141247587hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg384617
hg194617
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602451
Supporting Variants
SamplesHG01801
Known GenesLOC100129858, SCOC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11634697
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