A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9622825



Internal ID13368782
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 StatusS
Merged Variantsesv3445816
Supporting Variants
SamplesNA12045
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9622825
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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