A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715014



Internal ID9949299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88501546..88501864hg38UCSC Ensembl
Outerchr16:88567954..88568272hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709993, essv6747252, essv6756931, essv6820369, essv6732751
SamplesSSM041, SSM047, SSM001, SSM078, SSM055
Known GenesZFPM1
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)esv2715014
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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