A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602199



Internal ID6989233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:130115822..130127524hg38UCSC Ensembl
Innerchr4:130115822..130127524hg38UCSC Ensembl
Outerchr4:130115563..130127749hg38UCSC Ensembl
chr4:131036977..131048679hg19UCSC Ensembl
Innerchr4:131036977..131048679hg19UCSC Ensembl
Outerchr4:131036718..131048904hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3811703
hg1911703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11603189, essv11603188, essv11603187
SamplesHG03603, HG03775, HG02725
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602199
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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