A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335627



Internal ID15182617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117792564..117795362hg38UCSC Ensembl
Innerchr12:117793564..117794362hg38UCSC Ensembl
Outerchr12:117791564..117796362hg38UCSC Ensembl
chr12:118230369..118233167hg19UCSC Ensembl
Innerchr12:118231369..118232167hg19UCSC Ensembl
Outerchr12:118229369..118234167hg19UCSC Ensembl
chr12:116714752..116717550hg18UCSC Ensembl
Innerchr12:116715752..116716550hg18UCSC Ensembl
Outerchr12:116713752..116718550hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv923e59
Supporting Variantsessv8688565
SamplesNA19240
Known GenesKSR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335627
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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