A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638782



Internal ID6678879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:61660192..61663839hg38UCSC Ensembl
Innerchr16:61660242..61663789hg38UCSC Ensembl
Outerchr16:61660142..61663889hg38UCSC Ensembl
chr16:61694096..61697743hg19UCSC Ensembl
Innerchr16:61694146..61697693hg19UCSC Ensembl
Outerchr16:61694046..61697793hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg383648
hg193648
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15496290, essv15496288, essv15496292, essv15496289, essv15496291, essv15496293
SamplesHG00637, HG00159, NA19913, NA11840, HG00246, HG01375
Known GenesCDH8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638782
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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