A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12878669



Internal ID5902308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:86340371..86341480hg38UCSC Ensembl
Innerchr7:86340376..86341475hg38UCSC Ensembl
Outerchr7:86340366..86341485hg38UCSC Ensembl
chr7:85969687..85970796hg19UCSC Ensembl
Innerchr7:85969692..85970791hg19UCSC Ensembl
Outerchr7:85969682..85970801hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614015
Supporting Variants
SamplesNA19318
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12878669
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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