A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12928385



Internal ID4863532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:111124642..111183754hg38UCSC Ensembl
Innerchr7:111124642..111183754hg38UCSC Ensembl
Outerchr7:111124142..111184254hg38UCSC Ensembl
chr7:110764698..110823810hg19UCSC Ensembl
Innerchr7:110764698..110823810hg19UCSC Ensembl
Outerchr7:110764198..110824310hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3859113
hg1959113
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614551
Supporting Variants
SamplesNA12286
Known GenesIMMP2L, LRRN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12928385
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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