A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12053596



Internal ID3119859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127730511..127737861hg38UCSC Ensembl
Innerchr5:127730571..127737802hg38UCSC Ensembl
Outerchr5:127730452..127737921hg38UCSC Ensembl
chr5:127066203..127073553hg19UCSC Ensembl
Innerchr5:127066263..127073494hg19UCSC Ensembl
Outerchr5:127066144..127073613hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg387351
hg197351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606710
Supporting Variants
SamplesHG02737
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12053596
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