A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11710118



Internal ID1711934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174496952..174511888hg38UCSC Ensembl
Innerchr4:174496952..174511888hg38UCSC Ensembl
Outerchr4:174496767..174512026hg38UCSC Ensembl
chr4:175418103..175433039hg19UCSC Ensembl
Innerchr4:175418103..175433039hg19UCSC Ensembl
Outerchr4:175417918..175433177hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3814937
hg1914937
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603230
Supporting Variants
SamplesHG02561
Known GenesHPGD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11710118
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