A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602142



Internal ID6989176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127222187..127229172hg38UCSC Ensembl
Innerchr4:127222187..127229172hg38UCSC Ensembl
Outerchr4:127221972..127229386hg38UCSC Ensembl
chr4:128143342..128150327hg19UCSC Ensembl
Innerchr4:128143342..128150327hg19UCSC Ensembl
Outerchr4:128143127..128150541hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg386986
hg196986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11596411
SamplesHG04100
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602142
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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