A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600330



Internal ID6640594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41225366..41230057hg38UCSC Ensembl
Innerchr4:41225417..41230006hg38UCSC Ensembl
Outerchr4:41225315..41230108hg38UCSC Ensembl
chr4:41227383..41232074hg19UCSC Ensembl
Innerchr4:41227434..41232023hg19UCSC Ensembl
Outerchr4:41227332..41232125hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg384692
hg194692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11405832, essv11405831, essv11405829, essv11405830
SamplesNA12058, NA20519, NA20786, HG01786
Known GenesUCHL1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600330
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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