A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425525



Internal ID14925796
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 StatusM
Merged Variants
Supporting Variantsessv8937905, essv8937904, essv8937906
SamplesNA19093, NA19172, NA18519
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425525
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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