A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750345



Internal ID9984629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1507319..1508073hg38UCSC Ensembl
Outerchr16:1557320..1558074hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38755
hg19755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857952, essv6882678, essv6784048, essv6772547, essv6842923, essv6732584, essv6673929, essv6741488, essv6724935, essv6932353, essv6768857, essv6966556, essv6913054, essv6776319, essv6788245, essv6900976, essv6945480, essv6809921, essv6846312, essv6796497, essv6971326, essv6824091, essv6905349
SamplesSSM100, SSM008, SSM071, SSM027, SSM045, SSM064, SSM079, SSM065, SSM087, SSM013, SSM009, SSM023, SSM028, SSM084, SSM047, SSM069, SSM094, SSM031, SSM085, SSM068, SSM020, SSM015, SSM052
Known GenesTELO2
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)esv2750345
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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