A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340915



Internal ID15187902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31603450..31603469hg38UCSC Ensembl
Innerchr7:31603446..31603473hg38UCSC Ensembl
Outerchr7:31603427..31603492hg38UCSC Ensembl
chr7:31643064..31643083hg19UCSC Ensembl
Innerchr7:31643060..31643087hg19UCSC Ensembl
Outerchr7:31643041..31643106hg19UCSC Ensembl
chr7:31609589..31609608hg18UCSC Ensembl
Innerchr7:31609612..31609585hg18UCSC Ensembl
Outerchr7:31609566..31609631hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9633191
SamplesNA12873
Known GenesCCDC129
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340915
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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