A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542176



Internal ID18743252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101425102..101425269hg38UCSC Ensembl
Outerchr7:101425100..101425273hg38UCSC Ensembl
Innerchr7:101068383..101068550hg19UCSC Ensembl
Outerchr7:101068381..101068554hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740923
Samples
Known GenesCOL26A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542176
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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