A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12726986



Internal ID5435775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35145010..35151908hg38UCSC Ensembl
Innerchr7:35145060..35151858hg38UCSC Ensembl
Outerchr7:35144960..35151958hg38UCSC Ensembl
chr7:35184622..35191520hg19UCSC Ensembl
Innerchr7:35184672..35191470hg19UCSC Ensembl
Outerchr7:35184572..35191570hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg386899
hg196899
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612811
Supporting Variants
SamplesNA18959
Known GenesDPY19L2P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12726986
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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