A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11584538



Internal ID2976650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119137905..119139837hg38UCSC Ensembl
Innerchr4:119137917..119139826hg38UCSC Ensembl
Outerchr4:119137894..119139849hg38UCSC Ensembl
chr4:120059060..120060992hg19UCSC Ensembl
Innerchr4:120059072..120060981hg19UCSC Ensembl
Outerchr4:120059049..120061004hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg381933
hg191933
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601963
Supporting Variants
SamplesHG02628
Known GenesMYOZ2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11584538
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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