A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601457



Internal ID6641711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94846938..94852325hg38UCSC Ensembl
Innerchr4:94847438..94851825hg38UCSC Ensembl
Outerchr4:94845938..94853325hg38UCSC Ensembl
chr4:95768089..95773476hg19UCSC Ensembl
Innerchr4:95768589..95772976hg19UCSC Ensembl
Outerchr4:95767089..95774476hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg385388
hg195388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11539427
SamplesNA19017
Known GenesBMPR1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601457
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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