A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12819734



Internal ID5179345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66965567..66968027hg38UCSC Ensembl
Innerchr7:66965610..66967985hg38UCSC Ensembl
Outerchr7:66965525..66968070hg38UCSC Ensembl
chr7:66430554..66433014hg19UCSC Ensembl
Innerchr7:66430597..66432972hg19UCSC Ensembl
Outerchr7:66430512..66433057hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg382461
hg192461
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613532
Supporting Variants
SamplesNA18605
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12819734
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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