A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717068



Internal ID10300704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48730261..48731000hg38UCSC Ensembl
Outerchr18:46256632..46257371hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv454e201
Supporting Variantsessv6809979, essv6863322, essv6843296, essv6715809, essv6741732, essv6776465, essv6885608
SamplesSSM075, SSM088, SSM084, SSM066, SSM006, SSM095, SSM052
Known GenesCTIF
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)esv2717068
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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