A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613739



Internal ID7000634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75787266..75791244hg38UCSC Ensembl
Innerchr7:75787766..75790744hg38UCSC Ensembl
Outerchr7:75786266..75792244hg38UCSC Ensembl
chr7:75416584..75420562hg19UCSC Ensembl
Innerchr7:75417084..75420062hg19UCSC Ensembl
Outerchr7:75415584..75421562hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383979
hg193979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12848222, essv12848223, essv12848224, essv12848227, essv12848225, essv12848226
SamplesNA21111, HG04194, HG02727, HG03885, HG03838, NA21133
Known GenesCCL26
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613739
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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