A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714810



Internal ID9949095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:83764281..83765058hg38UCSC Ensembl
Outerchr16:83797886..83798663hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966741, essv6924915, essv6901853, essv6920815, essv6768951, essv6744407, essv6940975, essv6874093, essv6713526, essv6750069, essv6913192, essv6777210, essv6747245, essv6742842, essv6810643, essv6815960, essv6772659, essv6717384, essv6776259, essv6916687, essv6971452, essv6936801, essv6665625, essv6792460, essv6732731, essv6901062, essv6682125
SamplesSSM065, SSM022, SSM007, SSM027, SSM053, SSM055, SSM091, SSM033, SSM042, SSM043, SSM064, SSM016, SSM077, SSM012, SSM100, SSM056, SSM017, SSM009, SSM066, SSM028, SSM029, SSM047, SSM021, SSM015, SSM008, SSM018, SSM070
Known GenesCDH13
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)esv2714810
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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