A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598029



Internal ID6985165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:144232087..144235572hg38UCSC Ensembl
Innerchr3:144232087..144235572hg38UCSC Ensembl
Outerchr3:144231885..144235800hg38UCSC Ensembl
chr3:143950929..143954414hg19UCSC Ensembl
Innerchr3:143950929..143954414hg19UCSC Ensembl
Outerchr3:143950727..143954642hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg383486
hg193486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11166343, essv11166344, essv11166345, essv11166342
SamplesNA19377, NA19042, NA19452, NA19463
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598029
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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