A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11730315



Internal ID5885427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:181489981..181502775hg38UCSC Ensembl
Innerchr4:181489981..181502775hg38UCSC Ensembl
Outerchr4:181489481..181503275hg38UCSC Ensembl
chr4:182411134..182423928hg19UCSC Ensembl
Innerchr4:182411134..182423928hg19UCSC Ensembl
Outerchr4:182410634..182424428hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3812795
hg1912795
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603409
Supporting Variants
SamplesNA19310
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11730315
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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