A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613143



Internal ID7000041
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12772169
SamplesNA18592
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613143
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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