A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11314834



Internal ID3246445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:483251..490320hg38UCSC Ensembl
Innerchr4:483751..489820hg38UCSC Ensembl
Outerchr4:482251..491320hg38UCSC Ensembl
chr4:477040..484109hg19UCSC Ensembl
Innerchr4:477540..483609hg19UCSC Ensembl
Outerchr4:476040..485109hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg387070
hg197070
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599373
Supporting Variants
SamplesHG02860
Known GenesZNF721
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11314834
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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