A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642199



Internal ID7028969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35345359..35347988hg38UCSC Ensembl
Innerchr18:35345359..35347988hg38UCSC Ensembl
Outerchr18:35345149..35348260hg38UCSC Ensembl
chr18:32925323..32927952hg19UCSC Ensembl
Innerchr18:32925323..32927952hg19UCSC Ensembl
Outerchr18:32925113..32928224hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg382630
hg192630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15842013, essv15842018, essv15842017, essv15842014, essv15842015, essv15842019, essv15842016
SamplesHG01402, HG01325, HG00272, NA12283, HG00335, HG01334, HG00180
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642199
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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