A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335484



Internal ID14835757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152264834..152292632hg38UCSC Ensembl
Innerchr7:152265834..152291632hg38UCSC Ensembl
Outerchr7:152263834..152293632hg38UCSC Ensembl
chr7:151961919..151989717hg19UCSC Ensembl
Innerchr7:151962919..151988717hg19UCSC Ensembl
Outerchr7:151960919..151990717hg19UCSC Ensembl
chr7:151592852..151620650hg18UCSC Ensembl
Innerchr7:151593852..151619650hg18UCSC Ensembl
Outerchr7:151591852..151621650hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3827799
hg1927799
hg1827799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3995e59
Supporting Variantsessv8695638
SamplesNA12892
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335484
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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