A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11603195



Internal ID1363391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:130221109..130264956hg38UCSC Ensembl
Innerchr4:130221109..130264956hg38UCSC Ensembl
Outerchr4:130220609..130265456hg38UCSC Ensembl
chr4:131142264..131186111hg19UCSC Ensembl
Innerchr4:131142264..131186111hg19UCSC Ensembl
Outerchr4:131141764..131186611hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3843848
hg1943848
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602201
Supporting Variants
SamplesHG01204
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11603195
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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