A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688955



Internal ID15048893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42283616..42285314hg38UCSC Ensembl
Innerchr13:42284314..42284616hg38UCSC Ensembl
Outerchr13:42282616..42286314hg38UCSC Ensembl
chr13:42857752..42859450hg19UCSC Ensembl
Innerchr13:42858450..42858752hg19UCSC Ensembl
Outerchr13:42856752..42860450hg19UCSC Ensembl
chr13:41755752..41757450hg18UCSC Ensembl
Innerchr13:41756752..41756450hg18UCSC Ensembl
Outerchr13:41754752..41758450hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350440
Supporting Variants
SamplesNA19239
Known GenesAKAP11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688955
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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