A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416476



Internal ID15263435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102247171..102247224hg38UCSC Ensembl
Innerchr7:102247091..102247304hg38UCSC Ensembl
Outerchr7:102247038..102247357hg38UCSC Ensembl
chr7:101890451..101890504hg19UCSC Ensembl
Innerchr7:101890371..101890584hg19UCSC Ensembl
Outerchr7:101890318..101890637hg19UCSC Ensembl
chr7:101677171..101677224hg18UCSC Ensembl
Innerchr7:101677304..101677091hg18UCSC Ensembl
Outerchr7:101677038..101677357hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7862755
SamplesNA18516
Known GenesCUX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416476
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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