A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383527



Internal ID15230497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:26212207..26213405hg38UCSC Ensembl
Innerchr7:26212405..26213207hg38UCSC Ensembl
Outerchr7:26211207..26214405hg38UCSC Ensembl
chr7:26251827..26253025hg19UCSC Ensembl
Innerchr7:26252025..26252827hg19UCSC Ensembl
Outerchr7:26250827..26254025hg19UCSC Ensembl
chr7:26218352..26219550hg18UCSC Ensembl
Innerchr7:26219352..26218550hg18UCSC Ensembl
Outerchr7:26217352..26220550hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3757e59
Supporting Variantsessv8695767
SamplesNA12878
Known GenesCBX3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383527
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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