A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674664



Internal ID377277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7473339..7535959hg38UCSC Ensembl
Innerchr7:7473339..7535959hg38UCSC Ensembl
Outerchr7:7472839..7536459hg38UCSC Ensembl
chr7:7512970..7575590hg19UCSC Ensembl
Innerchr7:7512970..7575590hg19UCSC Ensembl
Outerchr7:7512470..7576090hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3862621
hg1962621
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612086
Supporting Variants
SamplesHG00109
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674664
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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