A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715058



Internal ID9949343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88834040..88835333hg38UCSC Ensembl
Outerchr16:88900448..88901741hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709996, essv6953894, essv6792489, essv6824234, essv6971472, essv6966775, essv6788394, essv6901870, essv6831901, essv6732755, essv6796663, essv6838965, essv6828319, essv6761384, essv6776281, essv6665665, essv6839251
SamplesSSM083, SSM071, SSM027, SSM079, SSM041, SSM028, SSM047, SSM069, SSM061, SSM029, SSM066, SSM081, SSM080, SSM010, SSM070, SSM025, SSM012
Known GenesGALNS
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2715058
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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