A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11125388



Internal ID3627883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124202779..124210184hg38UCSC Ensembl
Innerchr3:124202779..124210184hg38UCSC Ensembl
Outerchr3:124202624..124210367hg38UCSC Ensembl
chr3:123921626..123929031hg19UCSC Ensembl
Innerchr3:123921626..123929031hg19UCSC Ensembl
Outerchr3:123921471..123929214hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg387406
hg197406
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597637
Supporting Variants
SamplesHG03225
Known GenesKALRN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11125388
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