A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11432612



Internal ID1434428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52854122..52865927hg38UCSC Ensembl
chr4:53720289..53732094hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3811806
hg1911806
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600512
Supporting Variants
SamplesNA19320
Known GenesRASL11B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11432612
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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