A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393617



Internal ID15240582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50155825..50155884hg38UCSC Ensembl
Innerchr7:50155841..50155866hg38UCSC Ensembl
Outerchr7:50155807..50155900hg38UCSC Ensembl
chr7:50195421..50195480hg19UCSC Ensembl
Innerchr7:50195437..50195462hg19UCSC Ensembl
Outerchr7:50195403..50195496hg19UCSC Ensembl
chr7:50165967..50166026hg18UCSC Ensembl
Innerchr7:50165983..50166008hg18UCSC Ensembl
Outerchr7:50165949..50166042hg18UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671436
SamplesNA12878
Known GenesC7orf72
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393617
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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