A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11434689



Internal ID3613876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53201962..53215948hg38UCSC Ensembl
chr4:54068129..54082115hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3813987
hg1913987
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600518
Supporting Variants
SamplesHG03202
Known GenesSCFD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11434689
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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