A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600248



Internal ID6987292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37616725..37619011hg38UCSC Ensembl
Innerchr4:37616727..37619010hg38UCSC Ensembl
Outerchr4:37616724..37619013hg38UCSC Ensembl
chr4:37618347..37620633hg19UCSC Ensembl
Innerchr4:37618349..37620632hg19UCSC Ensembl
Outerchr4:37618346..37620635hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382287
hg192287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11396044, essv11396046, essv11396043, essv11396045
SamplesHG03007, HG03940, HG03875, HG02699
Known GenesRELL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600248
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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