A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000049



Internal ID7065184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101437895..101445984hg38UCSC Ensembl
Outerchr7:101081176..101089265hg19UCSC Ensembl
Outerchr7:100867896..100875985hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388090
hg198090
hg188090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565492
SamplesHuRef
Known GenesCOL26A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000049
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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