A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12038957



Internal ID2255052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120647389..120670752hg38UCSC Ensembl
chr5:119983084..120006447hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3823364
hg1923364
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606531
Supporting Variants
SamplesHG02017
Known GenesPRR16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12038957
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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