A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678349



Internal ID9944454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76103645..76169807hg38UCSC Ensembl
chr7:75732963..75799125hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3866163
hg1966163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6460843, essv6277253, essv6252410, essv5808964, essv6489281, essv5916056, essv6079259, essv5937185, essv6483253, essv6351348, essv5807881, essv6521009, essv6119043, essv5765198, essv6589584, essv5569992, essv5615830, essv6496493
SamplesNA19466, HG00699, NA19446, NA19068, HG01351, HG00148, HG00427, HG00326, HG00533, HG01390, NA19461, HG00140, HG00276, NA19469, HG00246, NA18983, NA18549, HG00593
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678349
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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