A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302601



Internal ID15149549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51348687..51348840hg38UCSC Ensembl
Innerchr13:51348763..51348763hg38UCSC Ensembl
Outerchr13:51348587..51348940hg38UCSC Ensembl
chr13:51922823..51922976hg19UCSC Ensembl
Innerchr13:51922899..51922899hg19UCSC Ensembl
Outerchr13:51922723..51923076hg19UCSC Ensembl
chr13:50820824..50820977hg18UCSC Ensembl
Innerchr13:50820900..50820900hg18UCSC Ensembl
Outerchr13:50820724..50821077hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38154
hg19154
hg18154
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1000e59
Supporting Variantsessv7731223, essv7731176, essv7730922, essv7731542
SamplesNA12891, NA19238, NA19239, NA19240
Known GenesSERPINE3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302601
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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