A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6673983



Internal ID9742889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31517908..31811532hg38UCSC Ensembl
Outerchr16:31529229..31822853hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38293625
hg19293625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714195
Supporting Variants
SamplesSSM031
Known GenesAHSP, CLUHP3, YBX3P1, ZNF720
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)essv6673983
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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