A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15997218



Internal ID5999034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14178323..14179615hg38UCSC Ensembl
Innerchr19:14178373..14179565hg38UCSC Ensembl
Outerchr19:14178271..14179667hg38UCSC Ensembl
chr19:14289135..14290427hg19UCSC Ensembl
Innerchr19:14289185..14290377hg19UCSC Ensembl
Outerchr19:14289083..14290479hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381293
hg191293
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643735
Supporting Variants
SamplesHG03607
Known GenesLPHN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15997218
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