A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714955



Internal ID9949240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88053825..88054455hg38UCSC Ensembl
Outerchr16:88087431..88088061hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784213, essv6891771, essv6913205, essv6932523, essv6901070, essv6806817, essv6966763, essv6717399
SamplesSSM027, SSM043, SSM020, SSM097, SSM100, SSM068, SSM074, SSM015
Known GenesBANP
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)esv2714955
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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