A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643842



Internal ID6683911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18686684..18689703hg38UCSC Ensembl
Innerchr19:18686691..18689696hg38UCSC Ensembl
Outerchr19:18686677..18689710hg38UCSC Ensembl
chr19:18797494..18800513hg19UCSC Ensembl
Innerchr19:18797501..18800506hg19UCSC Ensembl
Outerchr19:18797487..18800520hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg383020
hg193020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16003965, essv16003966, essv16003968, essv16003969, essv16003967
SamplesNA18488, NA19324, HG02814, NA18502, HG02484
Known GenesCRTC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643842
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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