A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386629



Internal ID14886911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28837954..28837973hg38UCSC Ensembl
Innerchr13:28837950..28837977hg38UCSC Ensembl
Outerchr13:28837931..28837996hg38UCSC Ensembl
chr13:29412091..29412110hg19UCSC Ensembl
Innerchr13:29412087..29412114hg19UCSC Ensembl
Outerchr13:29412068..29412133hg19UCSC Ensembl
chr13:28310091..28310110hg18UCSC Ensembl
Innerchr13:28310114..28310087hg18UCSC Ensembl
Outerchr13:28310068..28310133hg18UCSC Ensembl
Cytoband13q12.3
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 Variantsessv8677946
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386629
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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