A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307607



Internal ID14807869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146706124..146706125hg38UCSC Ensembl
Innerchr7:146706074..146706175hg38UCSC Ensembl
Outerchr7:146706073..146706176hg38UCSC Ensembl
chr7:146403216..146403217hg19UCSC Ensembl
Innerchr7:146403166..146403267hg19UCSC Ensembl
Outerchr7:146403165..146403268hg19UCSC Ensembl
chr7:146034149..146034150hg18UCSC Ensembl
Innerchr7:146034200..146034099hg18UCSC Ensembl
Outerchr7:146034098..146034201hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749666, essv7759793, essv7742292
SamplesNA19093, NA19172, NA18519
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307607
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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