A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302720



Internal ID15149668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140481793..140489390hg38UCSC Ensembl
Innerchr7:140481893..140489290hg38UCSC Ensembl
Outerchr7:140481693..140489490hg38UCSC Ensembl
chr7:140181593..140189190hg19UCSC Ensembl
Innerchr7:140181693..140189090hg19UCSC Ensembl
Outerchr7:140181493..140189290hg19UCSC Ensembl
chr7:139828062..139835659hg18UCSC Ensembl
Innerchr7:139828162..139835559hg18UCSC Ensembl
Outerchr7:139827962..139835759hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg387598
hg197598
hg187598
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738264, essv7734485, essv7735535, essv7733862, essv7738206, essv7736199, essv7733722, essv7739008, essv7737965, essv7736508, essv7738397, essv7736122, essv7736409, essv7732470, essv7738860, essv7732680, essv7736327, essv7732899, essv7738718, essv7735690, essv7738364, essv7738007, essv7736952, essv7733671, essv7733071, essv7737467, essv7738636, essv7733761, essv7737783, essv7737658, essv7736429, essv7738279
SamplesNA11829, NA10851, NA12751, NA19190, NA18944, NA18940, NA18550, NA18960, NA11918, NA19138, NA11994, NA12828, NA11993, NA10847, NA18579, NA18948, NA18912, NA18555, NA18523, NA18570, NA12043, NA18952, NA07051, NA07037, NA06986, NA18501, NA19093, NA18552, NA18505, NA12006, NA12154, NA18562
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302720
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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