A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11638154



Internal ID1639970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144075474..144133907hg38UCSC Ensembl
chr4:144996627..145055060hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3858434
hg1958434
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602533
Supporting Variants
SamplesNA20867
Known GenesGYPA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11638154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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