A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11440454



Internal ID6531314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56088784..56089590hg38UCSC Ensembl
Innerchr4:56088804..56089571hg38UCSC Ensembl
Outerchr4:56088765..56089610hg38UCSC Ensembl
chr4:56954950..56955756hg19UCSC Ensembl
Innerchr4:56954970..56955737hg19UCSC Ensembl
Outerchr4:56954931..56955776hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600568
Supporting Variants
SamplesNA20581
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11440454
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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