A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7730922



Internal ID15011034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51348688..51348840hg38UCSC Ensembl
Innerchr13:51348763..51348764hg38UCSC Ensembl
Outerchr13:51348588..51348940hg38UCSC Ensembl
chr13:51922824..51922976hg19UCSC Ensembl
Innerchr13:51922899..51922900hg19UCSC Ensembl
Outerchr13:51922724..51923076hg19UCSC Ensembl
chr13:50820825..50820977hg18UCSC Ensembl
Innerchr13:50820901..50820900hg18UCSC Ensembl
Outerchr13:50820725..50821077hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302601
Supporting Variants
SamplesNA19238
Known GenesSERPINE3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7730922
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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