A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12913417



Internal ID6169366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104928207..104930597hg38UCSC Ensembl
Innerchr7:104928231..104930574hg38UCSC Ensembl
Outerchr7:104928184..104930621hg38UCSC Ensembl
chr7:104568654..104571044hg19UCSC Ensembl
Innerchr7:104568678..104571021hg19UCSC Ensembl
Outerchr7:104568631..104571068hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg382391
hg192391
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614410
Supporting Variants
SamplesNA19711
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12913417
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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