A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612433



Internal ID6999334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:17469583..17491166hg38UCSC Ensembl
Innerchr7:17469584..17491165hg38UCSC Ensembl
Outerchr7:17469582..17491167hg38UCSC Ensembl
chr7:17509207..17530790hg19UCSC Ensembl
Innerchr7:17509208..17530789hg19UCSC Ensembl
Outerchr7:17509206..17530791hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3821584
hg1921584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12689279, essv12689280
SamplesHG01413, HG01405
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612433
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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