A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589447



Internal ID6629736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245767201..245780520hg38UCSC Ensembl
Innerchr1:245767228..245780493hg38UCSC Ensembl
Outerchr1:245767174..245780547hg38UCSC Ensembl
chr1:245930503..245943822hg19UCSC Ensembl
Innerchr1:245930530..245943795hg19UCSC Ensembl
Outerchr1:245930476..245943849hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3813320
hg1913320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10360561, essv10360559, essv10360560, essv10360558
SamplesHG03668, NA21130, NA21143, NA21126
Known GenesSMYD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589447
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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