A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5713137



Internal ID9114682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143790709..144031596hg38UCSC Ensembl
chr4:144711862..144952749hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38240888
hg19240888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664282
Supporting Variants
SamplesHG01113
Known GenesGYPB, GYPE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5713137
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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