A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12841019



Internal ID1995213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73392101..73398949hg38UCSC Ensembl
Innerchr7:73392601..73398449hg38UCSC Ensembl
Outerchr7:73391101..73399949hg38UCSC Ensembl
chr7:72806431..72813279hg19UCSC Ensembl
Innerchr7:72806931..72812779hg19UCSC Ensembl
Outerchr7:72805431..72814279hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386849
hg196849
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613683
Supporting Variants
SamplesHG01849
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12841019
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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