A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6373366



Internal ID9350769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94949297..94949615hg38UCSC Ensembl
chr4:95870448..95870766hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2667118
Supporting Variants
SamplesHG00560
Known GenesBMPR1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6373366
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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