A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11405821



Internal ID6318546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41082467..41085386hg38UCSC Ensembl
Innerchr4:41082480..41085373hg38UCSC Ensembl
Outerchr4:41082454..41085399hg38UCSC Ensembl
chr4:41084484..41087403hg19UCSC Ensembl
Innerchr4:41084497..41087390hg19UCSC Ensembl
Outerchr4:41084471..41087416hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382920
hg192920
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600327
Supporting Variants
SamplesNA19917
Known GenesAPBB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11405821
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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