A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396108



Internal ID14896386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146675783..146675799hg38UCSC Ensembl
Innerchr7:146675781..146675799hg38UCSC Ensembl
Outerchr7:146675767..146675815hg38UCSC Ensembl
chr7:146372875..146372891hg19UCSC Ensembl
Innerchr7:146372873..146372891hg19UCSC Ensembl
Outerchr7:146372859..146372907hg19UCSC Ensembl
chr7:146003808..146003824hg18UCSC Ensembl
Innerchr7:146003824..146003806hg18UCSC Ensembl
Outerchr7:146003792..146003840hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8937899, essv8937897, essv8937900, essv8937902, essv8937901, essv8937898
SamplesNA18870, NA18523, NA18916, NA18498, NA18510, NA18853
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396108
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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