A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12772169



Internal ID5157734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51546969..51557947hg38UCSC Ensembl
Innerchr7:51546969..51557947hg38UCSC Ensembl
Outerchr7:51546759..51558148hg38UCSC Ensembl
chr7:51614666..51625644hg19UCSC Ensembl
Innerchr7:51614666..51625644hg19UCSC Ensembl
Outerchr7:51614456..51625845hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3810979
hg1910979
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613143
Supporting Variants
SamplesNA18592
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12772169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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