A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12684940



Internal ID4627326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:13413888..13418402hg38UCSC Ensembl
Innerchr7:13413888..13418402hg38UCSC Ensembl
Outerchr7:13413685..13418616hg38UCSC Ensembl
chr7:13453513..13458027hg19UCSC Ensembl
Innerchr7:13453513..13458027hg19UCSC Ensembl
Outerchr7:13453310..13458241hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg384515
hg194515
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612294
Supporting Variants
SamplesHG04159
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12684940
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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