A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369216



Internal ID14869475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44970928..44974826hg38UCSC Ensembl
Innerchr7:44971928..44973826hg38UCSC Ensembl
Outerchr7:44969928..44975826hg38UCSC Ensembl
chr7:45010527..45014425hg19UCSC Ensembl
Innerchr7:45011527..45013425hg19UCSC Ensembl
Outerchr7:45009527..45015425hg19UCSC Ensembl
chr7:44977052..44980950hg18UCSC Ensembl
Innerchr7:44978052..44979950hg18UCSC Ensembl
Outerchr7:44976052..44981950hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg383899
hg193899
hg183899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695796
SamplesNA19240
Known GenesMYO1G
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369216
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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