A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717347



Internal ID10300983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:74514225..74514863hg38UCSC Ensembl
Outerchr18:72181460..72182098hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38639
hg19639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921098, essv6882916, essv6967156, essv6852513, essv6905678, essv6835671, essv6977894, essv6913461, essv6666104, essv6772915, essv6954136, essv6960685, essv6937077, essv6902062, essv6863367, essv6756173
SamplesSSM027, SSM065, SSM013, SSM088, SSM058, SSM021, SSM029, SSM026, SSM017, SSM094, SSM086, SSM082, SSM015, SSM025, SSM004, SSM012
Known GenesCNDP2
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)esv2717347
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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