A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12710390



Internal ID2712206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:26182347..26183138hg38UCSC Ensembl
Innerchr7:26182347..26183138hg38UCSC Ensembl
Outerchr7:26182034..26183411hg38UCSC Ensembl
chr7:26221967..26222758hg19UCSC Ensembl
Innerchr7:26221967..26222758hg19UCSC Ensembl
Outerchr7:26221654..26223031hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38792
hg19792
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612629
Supporting Variants
SamplesHG02390
Known GenesNFE2L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12710390
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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