A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641970



Internal ID7028741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23277265..23280849hg38UCSC Ensembl
Innerchr18:23277282..23280833hg38UCSC Ensembl
Outerchr18:23277249..23280866hg38UCSC Ensembl
chr18:20857229..20860813hg19UCSC Ensembl
Innerchr18:20857246..20860797hg19UCSC Ensembl
Outerchr18:20857213..20860830hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg383585
hg193585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15819598, essv15819596, essv15819599, essv15819600, essv15819597
SamplesNA20588, HG04180, NA12778, HG01530, NA20509
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641970
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