A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715048



Internal ID9949333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88825278..88825741hg38UCSC Ensembl
Outerchr16:88891686..88892149hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772687, essv6920842, essv6831900, essv6913210, essv6971471, essv6940999, essv6792485, essv6696199, essv6725095
SamplesSSM045, SSM065, SSM028, SSM017, SSM081, SSM015, SSM037, SSM022, SSM070
Known GenesGALNS
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)esv2715048
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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