A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599151



Internal ID6986199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192501639..192529320hg38UCSC Ensembl
Innerchr3:192501639..192529320hg38UCSC Ensembl
Outerchr3:192501386..192529565hg38UCSC Ensembl
chr3:192219428..192247109hg19UCSC Ensembl
Innerchr3:192219428..192247109hg19UCSC Ensembl
Outerchr3:192219175..192247354hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3827682
hg1927682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11274376
SamplesHG01815
Known GenesFGF12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599151
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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