A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642549



Internal ID7029318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:52529561..52531099hg38UCSC Ensembl
Innerchr18:52529561..52531099hg38UCSC Ensembl
Outerchr18:52529518..52531279hg38UCSC Ensembl
chr18:50055931..50057469hg19UCSC Ensembl
Innerchr18:50055931..50057469hg19UCSC Ensembl
Outerchr18:50055888..50057649hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381539
hg191539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15872960, essv15872959, essv15872961
SamplesNA19201, HG03081, HG03473
Known GenesDCC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642549
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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