A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434677



Internal ID15281631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123315027..123315327hg38UCSC Ensembl
Innerchr3:123315027..123315327hg38UCSC Ensembl
Outerchr3:123314843..123316148hg38UCSC Ensembl
chr3:123033874..123034174hg19UCSC Ensembl
Innerchr3:123033874..123034174hg19UCSC Ensembl
Outerchr3:123033690..123034995hg19UCSC Ensembl
chr3:124516564..124516864hg18UCSC Ensembl
Innerchr3:124516564..124516864hg18UCSC Ensembl
Outerchr3:124516380..124517685hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38301
hg19301
hg18301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652222
SamplesNA19240
Known GenesADCY5
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434677
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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