A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308956



Internal ID14809219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147383063..147383064hg38UCSC Ensembl
Innerchr7:147383035..147383092hg38UCSC Ensembl
Outerchr7:147383034..147383093hg38UCSC Ensembl
chr7:147080155..147080156hg19UCSC Ensembl
Innerchr7:147080127..147080184hg19UCSC Ensembl
Outerchr7:147080126..147080185hg19UCSC Ensembl
chr7:146711088..146711089hg18UCSC Ensembl
Innerchr7:146711117..146711060hg18UCSC Ensembl
Outerchr7:146711059..146711118hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38246
hg19246
hg18246
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836972
SamplesNA19239
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308956
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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