A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11432306



Internal ID2989748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52733612..52734592hg38UCSC Ensembl
Innerchr4:52733631..52734574hg38UCSC Ensembl
Outerchr4:52733594..52734611hg38UCSC Ensembl
chr4:53599779..53600759hg19UCSC Ensembl
Innerchr4:53599798..53600741hg19UCSC Ensembl
Outerchr4:53599761..53600778hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600507
Supporting Variants
SamplesHG02642
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11432306
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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