A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11383336



Internal ID6723801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:29951654..30083162hg38UCSC Ensembl
Innerchr4:29952154..30082662hg38UCSC Ensembl
Outerchr4:29950654..30084162hg38UCSC Ensembl
chr4:29953276..30084784hg19UCSC Ensembl
Innerchr4:29953776..30084284hg19UCSC Ensembl
Outerchr4:29952276..30085784hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38131509
hg19131509
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600061
Supporting Variants
SamplesNA20852
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11383336
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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