A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717510



Internal ID9951801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78370057..78373204hg38UCSC Ensembl
Outerchr18:76130057..76133204hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg383148
hg193148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv472e201
Supporting Variantsessv6843335, essv6796922, essv6792745, essv6880091, essv6816164, essv6852536, essv6721513, essv6678672, essv6839457, essv6932783, essv6824464, essv6788643, essv6816166
SamplesSSM083, SSM071, SSM079, SSM093, SSM084, SSM069, SSM032, SSM044, SSM086, SSM020, SSM077, SSM070
Known Genes
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)esv2717510
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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