A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306425



Internal ID14806687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146675783..146675784hg38UCSC Ensembl
Innerchr7:146675755..146675812hg38UCSC Ensembl
Outerchr7:146675754..146675813hg38UCSC Ensembl
chr7:146372875..146372876hg19UCSC Ensembl
Innerchr7:146372847..146372904hg19UCSC Ensembl
Outerchr7:146372846..146372905hg19UCSC Ensembl
chr7:146003808..146003809hg18UCSC Ensembl
Innerchr7:146003837..146003780hg18UCSC Ensembl
Outerchr7:146003779..146003838hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754024, essv7744255, essv7743233, essv7756143, essv7744590, essv7755214
SamplesNA18870, NA18523, NA18916, NA18498, NA18510, NA18853
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306425
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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