A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894224



Internal ID4127721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27213209..27231651hg38UCSC Ensembl
Innerchr1:27213709..27231151hg38UCSC Ensembl
Outerchr1:27212209..27232651hg38UCSC Ensembl
chr1:27539700..27558142hg19UCSC Ensembl
Innerchr1:27540200..27557642hg19UCSC Ensembl
Outerchr1:27538700..27559142hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3818443
hg1918443
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585556
Supporting Variants
SamplesHG03742
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894224
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