A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307922



Internal ID14808184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147505328..147505329hg38UCSC Ensembl
Innerchr7:147505311..147505346hg38UCSC Ensembl
Outerchr7:147505310..147505347hg38UCSC Ensembl
chr7:147202420..147202421hg19UCSC Ensembl
Innerchr7:147202403..147202438hg19UCSC Ensembl
Outerchr7:147202402..147202439hg19UCSC Ensembl
chr7:146833353..146833354hg18UCSC Ensembl
Innerchr7:146833371..146833336hg18UCSC Ensembl
Outerchr7:146833335..146833372hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839849, essv7841192, essv7840807
SamplesNA12892, NA12891, NA12878
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307922
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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