A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612291



Internal ID6999192
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1268e214
Supporting Variantsessv12684931, essv12684930
SamplesHG01860, HG02187
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612291
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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