A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11603251



Internal ID1363207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:130404368..130472383hg38UCSC Ensembl
chr4:131325523..131393538hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3868016
hg1968016
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602207
Supporting Variants
SamplesHG01204
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11603251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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