A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380933



Internal ID14881208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147383058..147383072hg38UCSC Ensembl
Innerchr7:147383058..147383070hg38UCSC Ensembl
Outerchr7:147383046..147383084hg38UCSC Ensembl
chr7:147080150..147080164hg19UCSC Ensembl
Innerchr7:147080150..147080162hg19UCSC Ensembl
Outerchr7:147080138..147080176hg19UCSC Ensembl
chr7:146711083..146711097hg18UCSC Ensembl
Innerchr7:146711095..146711083hg18UCSC Ensembl
Outerchr7:146711071..146711109hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38245
hg19245
hg18245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676726
SamplesNA19239
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380933
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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