A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12710380



Internal ID2712196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:26179273..26181724hg38UCSC Ensembl
Innerchr7:26179273..26181724hg38UCSC Ensembl
Outerchr7:26179051..26181977hg38UCSC Ensembl
chr7:26218893..26221344hg19UCSC Ensembl
Innerchr7:26218893..26221344hg19UCSC Ensembl
Outerchr7:26218671..26221597hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg382452
hg192452
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612628
Supporting Variants
SamplesHG01107
Known GenesNFE2L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12710380
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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