A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598608



Internal ID6985744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169863509..169918643hg38UCSC Ensembl
Innerchr3:169863659..169918493hg38UCSC Ensembl
Outerchr3:169863359..169918793hg38UCSC Ensembl
chr3:169581297..169636431hg19UCSC Ensembl
Innerchr3:169581447..169636281hg19UCSC Ensembl
Outerchr3:169581147..169636581hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3855135
hg1955135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11222965, essv11222966
SamplesHG03061, HG03745
Known GenesLRRC31, SAMD7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598608
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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