A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376769



Internal ID15223742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124785586..124785601hg38UCSC Ensembl
Innerchr3:124785560..124785627hg38UCSC Ensembl
Outerchr3:124785545..124785642hg38UCSC Ensembl
chr3:124504433..124504448hg19UCSC Ensembl
Innerchr3:124504407..124504474hg19UCSC Ensembl
Outerchr3:124504392..124504489hg19UCSC Ensembl
chr3:125987123..125987138hg18UCSC Ensembl
Innerchr3:125987164..125987097hg18UCSC Ensembl
Outerchr3:125987082..125987179hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864179
SamplesNA12005
Known GenesITGB5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376769
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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