A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344454



Internal ID14844721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146735688..146735688hg38UCSC Ensembl
Innerchr7:146735687..146735689hg38UCSC Ensembl
Outerchr7:146735628..146735738hg38UCSC Ensembl
chr7:146432780..146432780hg19UCSC Ensembl
Innerchr7:146432779..146432781hg19UCSC Ensembl
Outerchr7:146432720..146432830hg19UCSC Ensembl
chr7:146063713..146063713hg18UCSC Ensembl
Innerchr7:146063714..146063712hg18UCSC Ensembl
Outerchr7:146063653..146063763hg18UCSC 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 Variantsessv8841283
SamplesNA19240
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344454
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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