A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12684930



Internal ID2020291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:13364615..13402951hg38UCSC Ensembl
Innerchr7:13364615..13402951hg38UCSC Ensembl
Outerchr7:13364115..13403451hg38UCSC Ensembl
chr7:13404240..13442576hg19UCSC Ensembl
Innerchr7:13404240..13442576hg19UCSC Ensembl
Outerchr7:13403740..13443076hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3838337
hg1938337
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612291
Supporting Variants
SamplesHG01860
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12684930
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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