A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612084



Internal ID6998986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7449347..7451689hg38UCSC Ensembl
Innerchr7:7449347..7451689hg38UCSC Ensembl
Outerchr7:7449112..7451950hg38UCSC Ensembl
chr7:7488978..7491320hg19UCSC Ensembl
Innerchr7:7488978..7491320hg19UCSC Ensembl
Outerchr7:7488743..7491581hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg382343
hg192343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12674661
SamplesHG00309
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612084
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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