A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11361063



Internal ID886469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17591379..17593814hg38UCSC Ensembl
Innerchr4:17591379..17593814hg38UCSC Ensembl
Outerchr4:17591074..17594139hg38UCSC Ensembl
chr4:17593002..17595437hg19UCSC Ensembl
Innerchr4:17593002..17595437hg19UCSC Ensembl
Outerchr4:17592697..17595762hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg382436
hg192436
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599780
Supporting Variants
SamplesHG00476
Known GenesLAP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11361063
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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