A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637559



Internal ID6677663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:244840..246974hg38UCSC Ensembl
Innerchr16:244840..246974hg38UCSC Ensembl
Outerchr16:244682..247202hg38UCSC Ensembl
chr16:294839..296973hg19UCSC Ensembl
Innerchr16:294839..296973hg19UCSC Ensembl
Outerchr16:294681..297201hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382135
hg192135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15355164, essv15355165, essv15355167, essv15355166
SamplesHG03115, NA19920, HG02953, HG02470
Known GenesITFG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637559
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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