A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368849



Internal ID15215825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57644139..57645137hg38UCSC Ensembl
Innerchr16:57644138..57645138hg38UCSC Ensembl
Outerchr16:57643139..57646137hg38UCSC Ensembl
chr16:57678051..57679049hg19UCSC Ensembl
Innerchr16:57678050..57679050hg19UCSC Ensembl
Outerchr16:57677051..57680049hg19UCSC Ensembl
chr16:56235552..56236550hg18UCSC Ensembl
Innerchr16:56236551..56235551hg18UCSC Ensembl
Outerchr16:56234552..56237550hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690399
SamplesNA19240
Known GenesGPR56
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368849
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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