A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600473



Internal ID6987516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48978121..48993691hg38UCSC Ensembl
Innerchr4:48978121..48993691hg38UCSC Ensembl
Outerchr4:48977621..48994191hg38UCSC Ensembl
chr4:48980138..48995708hg19UCSC Ensembl
Innerchr4:48980138..48995708hg19UCSC Ensembl
Outerchr4:48979638..48996208hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3815571
hg1915571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11429710, essv11429709
SamplesNA18998, NA18945
Known GenesCWH43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600473
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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