A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375379



Internal ID14875643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147383061..147383111hg38UCSC Ensembl
Innerchr7:147383060..147383109hg38UCSC Ensembl
Outerchr7:147383013..147383159hg38UCSC Ensembl
chr7:147080153..147080203hg19UCSC Ensembl
Innerchr7:147080152..147080201hg19UCSC Ensembl
Outerchr7:147080105..147080251hg19UCSC Ensembl
chr7:146711086..146711136hg18UCSC Ensembl
Innerchr7:146711134..146711085hg18UCSC Ensembl
Outerchr7:146711038..146711184hg18UCSC 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 Variantsessv8937908, essv8937907, essv8937909, essv8937910
SamplesNA19257, NA18916, NA18498, NA19225
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375379
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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