A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11441762



Internal ID3734781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56673817..56678547hg38UCSC Ensembl
Innerchr4:56673817..56678547hg38UCSC Ensembl
Outerchr4:56673496..56678888hg38UCSC Ensembl
chr4:57539983..57544713hg19UCSC Ensembl
Innerchr4:57539983..57544713hg19UCSC Ensembl
Outerchr4:57539662..57545054hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384731
hg194731
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600583
Supporting Variants
SamplesHG03369
Known GenesHOPX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11441762
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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