A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600503



Internal ID6987546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52404599..52409868hg38UCSC Ensembl
Innerchr4:52404604..52409864hg38UCSC Ensembl
Outerchr4:52404595..52409873hg38UCSC Ensembl
chr4:53270765..53276034hg19UCSC Ensembl
Innerchr4:53270770..53276030hg19UCSC Ensembl
Outerchr4:53270761..53276039hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385270
hg195270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11432187, essv11432186
SamplesHG02561, HG02679
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600503
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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