A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695766



Internal ID13702410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:26212207..26213305hg38UCSC Ensembl
Innerchr7:26212305..26213207hg38UCSC Ensembl
Outerchr7:26211207..26214305hg38UCSC Ensembl
chr7:26251827..26252925hg19UCSC Ensembl
Innerchr7:26251925..26252827hg19UCSC Ensembl
Outerchr7:26250827..26253925hg19UCSC Ensembl
chr7:26218352..26219450hg18UCSC Ensembl
Innerchr7:26219352..26218450hg18UCSC Ensembl
Outerchr7:26217352..26220450hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3387859
Supporting Variants
SamplesNA12891
Known GenesCBX3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695766
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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