A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716855



Internal ID10300491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:23217865..23219092hg38UCSC Ensembl
Outerchr18:20797829..20799056hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381228
hg191228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750214, essv6788579, essv6685701, essv6792674, essv6928594, essv6960600, essv6932721, essv6725278, essv6666008, essv6758734, essv6941196, essv6913403
SamplesSSM059, SSM045, SSM069, SSM029, SSM026, SSM019, SSM020, SSM015, SSM022, SSM070, SSM034, SSM056
Known GenesCABLES1
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)esv2716855
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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