A curated catalogue of human genomic structural variation




Variant Details

Variant: esv271402



Internal ID1790418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:64233388..64233604hg19UCSC Ensembl
Outerchr10:64233352..64233640hg19UCSC Ensembl
Innerchr10:63903394..63903610hg18UCSC Ensembl
Outerchr10:63903358..63903646hg18UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv2535195, essv2549309, essv2573169, essv2519603, essv2565944, essv2531540, essv2540520, essv2565199, essv2555600, essv2520247, essv2559126, essv2544153, essv2576837, essv2559723, essv2577030, essv2572384, essv2544595, essv2553040, essv2528881
SamplesNA12154, NA12249, NA18526, NA12815, NA18542, NA12776, NA18566, NA18638, NA18609, NA18970, NA18572, NA18558, NA18564, NA18942, NA18961, NA18579, NA18945, NA18552, NA11992
Known GenesZNF365
Method
AnalysisAnalysis structural variant merging of all supporting structural variant calls generated by type of computational approach: read pair mapping and split read alignment.
Platform454 GS FLX + Illumina Genome Analyzer II
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv271402
Frequency
Sample Size157
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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