A curated catalogue of human genomic structural variation




Variant Details

Variant: esv272064



Internal ID1792558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56101160..56101388hg19UCSC Ensembl
Outerchr2:56101094..56101454hg19UCSC Ensembl
Innerchr2:55954664..55954892hg18UCSC Ensembl
Outerchr2:55954598..55954958hg18UCSC Ensembl
Cytoband2p16.1
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 Variantsessv2495972, essv2501198, essv2507097, essv2500646, essv2508265, essv2504172, essv2507618, essv2499888
SamplesNA18870, NA18561, NA18516, NA18505, NA18576, NA18961, NA18562, NA18571
Known GenesEFEMP1
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)esv272064
Frequency
Sample Size157
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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