A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380128



Internal ID14880401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147505330..147505340hg38UCSC Ensembl
Innerchr7:147505322..147505346hg38UCSC Ensembl
Outerchr7:147505312..147505356hg38UCSC Ensembl
chr7:147202422..147202432hg19UCSC Ensembl
Innerchr7:147202414..147202438hg19UCSC Ensembl
Outerchr7:147202404..147202448hg19UCSC Ensembl
chr7:146833355..146833365hg18UCSC Ensembl
Innerchr7:146833371..146833347hg18UCSC Ensembl
Outerchr7:146833337..146833381hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676727, essv8676728
SamplesNA19238, NA19240
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380128
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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