A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716772



Internal ID10300408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9783951..9793161hg38UCSC Ensembl
Outerchr18:9783948..9793158hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg389211
hg199211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741701, essv6921036, essv6913296, essv6769091, essv6902006, essv6806945, essv6824393, essv6882867, essv6796844, essv6721448, essv6725263, essv6858373, essv6753102, essv6801054
SamplesSSM071, SSM045, SSM064, SSM079, SSM087, SSM074, SSM002, SSM057, SSM017, SSM094, SSM044, SSM072, SSM052, SSM012
Known GenesRAB31
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)esv2716772
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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