A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3352963



Internal ID14853227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146735722..146735722hg38UCSC Ensembl
Innerchr7:146735721..146735723hg38UCSC Ensembl
Outerchr7:146735662..146735772hg38UCSC Ensembl
chr7:146432814..146432814hg19UCSC Ensembl
Innerchr7:146432813..146432815hg19UCSC Ensembl
Outerchr7:146432754..146432864hg19UCSC Ensembl
chr7:146063747..146063747hg18UCSC Ensembl
Innerchr7:146063748..146063746hg18UCSC Ensembl
Outerchr7:146063687..146063797hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8841284
SamplesNA19240
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3352963
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer