A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12949323



Internal ID6161194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124487541..124562334hg38UCSC Ensembl
Innerchr7:124487541..124562334hg38UCSC Ensembl
Outerchr7:124487041..124562834hg38UCSC Ensembl
chr7:124127595..124202388hg19UCSC Ensembl
Innerchr7:124127595..124202388hg19UCSC Ensembl
Outerchr7:124127095..124202888hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3874794
hg1974794
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614874
Supporting Variants
SamplesNA19703
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12949323
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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