A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11253018



Internal ID4362554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183497283..183498145hg38UCSC Ensembl
Innerchr3:183497333..183498095hg38UCSC Ensembl
Outerchr3:183497117..183498311hg38UCSC Ensembl
chr3:183215071..183215933hg19UCSC Ensembl
Innerchr3:183215121..183215883hg19UCSC Ensembl
Outerchr3:183214905..183216099hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38863
hg19863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598925
Supporting Variants
SamplesHG03896
Known GenesKLHL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11253018
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