A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445816



Internal ID15292766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74423203..74423222hg38UCSC Ensembl
Innerchr5:74423199..74423226hg38UCSC Ensembl
Outerchr5:74423180..74423245hg38UCSC Ensembl
chr5:73719028..73719047hg19UCSC Ensembl
Innerchr5:73719024..73719051hg19UCSC Ensembl
Outerchr5:73719005..73719070hg19UCSC Ensembl
chr5:73754784..73754803hg18UCSC Ensembl
Innerchr5:73754807..73754780hg18UCSC Ensembl
Outerchr5:73754761..73754826hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9622825, essv9622803, essv9622814
SamplesNA12045, NA11840, NA12249
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445816
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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