A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12890521



Internal ID5444971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92170742..92180166hg38UCSC Ensembl
Innerchr7:92170746..92180162hg38UCSC Ensembl
Outerchr7:92170738..92180170hg38UCSC Ensembl
chr7:91800056..91809480hg19UCSC Ensembl
Innerchr7:91800060..91809476hg19UCSC Ensembl
Outerchr7:91800052..91809484hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg389425
hg199425
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614137
Supporting Variants
SamplesNA18963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12890521
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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