A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8937906



Internal ID13885118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146706105..146706151hg38UCSC Ensembl
Innerchr7:146706119..146706135hg38UCSC Ensembl
Outerchr7:146706091..146706165hg38UCSC Ensembl
chr7:146403197..146403243hg19UCSC Ensembl
Innerchr7:146403211..146403227hg19UCSC Ensembl
Outerchr7:146403183..146403257hg19UCSC Ensembl
chr7:146034130..146034176hg18UCSC Ensembl
Innerchr7:146034144..146034160hg18UCSC Ensembl
Outerchr7:146034116..146034190hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38233
hg19233
hg18233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425525
Supporting Variants
SamplesNA18519
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8937906
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