A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3352282



Internal ID14852546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152376234..152385032hg38UCSC Ensembl
Innerchr7:152377234..152384032hg38UCSC Ensembl
Outerchr7:152375234..152386032hg38UCSC Ensembl
chr7:152073319..152082117hg19UCSC Ensembl
Innerchr7:152074319..152081117hg19UCSC Ensembl
Outerchr7:152072319..152083117hg19UCSC Ensembl
chr7:151704252..151713050hg18UCSC Ensembl
Innerchr7:151705252..151712050hg18UCSC Ensembl
Outerchr7:151703252..151714050hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg388799
hg198799
hg188799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3997e59
Supporting Variantsessv8695643
SamplesNA19239
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3352282
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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