A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376809



Internal ID15223782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144194587..144194606hg38UCSC Ensembl
Innerchr5:144194583..144194610hg38UCSC Ensembl
Outerchr5:144194564..144194629hg38UCSC Ensembl
chr5:143574150..143574169hg19UCSC Ensembl
Innerchr5:143574146..143574173hg19UCSC Ensembl
Outerchr5:143574127..143574192hg19UCSC Ensembl
chr5:143554343..143554362hg18UCSC Ensembl
Innerchr5:143554366..143554339hg18UCSC Ensembl
Outerchr5:143554320..143554385hg18UCSC Ensembl
Cytoband5q31.3
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 Variantsessv8678952
SamplesNA12878
Known GenesKCTD16
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376809
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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