A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8937907



Internal ID14999634
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 StatusS
Merged Variantsesv3375379
Supporting Variants
SamplesNA19225
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8937907
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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