A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714932



Internal ID10298568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87703970..87704849hg38UCSC Ensembl
Outerchr16:87737576..87738455hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741566, essv6839239, essv6792472, essv6888483, essv6713535, essv6682139, essv6953880, essv6885474, essv6776270, essv6924921, essv6815970, essv6725082, essv6913202, essv6742908, essv6960286, essv6971463, essv6846408, essv6838920, essv6916703, essv6936820, essv6843071, essv6932521, essv6665646
SamplesSSM083, SSM045, SSM042, SSM028, SSM084, SSM021, SSM018, SSM029, SSM096, SSM026, SSM033, SSM066, SSM085, SSM020, SSM007, SSM015, SSM016, SSM077, SSM010, SSM070, SSM095, SSM025, SSM052
Known Genes
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)esv2714932
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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