A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714081



Internal ID9948365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:22897633..22897928hg38UCSC Ensembl
Outerchr16:22908954..22909249hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678306, essv6966579, essv6851995, essv6857986, essv6673960, essv6895083, essv6870109, essv6867778, essv6812571, essv6882684, essv6820275, essv6824110, essv6888371, essv6839111, essv6665476, essv6960118, essv6900992, essv6862992, essv6909347, essv6709892, essv6721160, essv6879829
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM031, SSM032, SSM094, SSM083, SSM041, SSM093, SSM100, SSM011, SSM029, SSM087, SSM096, SSM079, SSM044, SSM026, SSM014, SSM098, SSM076
Known GenesHS3ST2
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)esv2714081
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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