A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600327



Internal ID6987371
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11405820, essv11405821
SamplesNA19917, HG00476
Known GenesAPBB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600327
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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