A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600452



Internal ID6640715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47610077..47614506hg38UCSC Ensembl
Innerchr4:47610077..47614506hg38UCSC Ensembl
Outerchr4:47609768..47614882hg38UCSC Ensembl
chr4:47612094..47616523hg19UCSC Ensembl
Innerchr4:47612094..47616523hg19UCSC Ensembl
Outerchr4:47611785..47616899hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg384430
hg194430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11427911, essv11427910
SamplesHG00699, NA18636
Known GenesCORIN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600452
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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