A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716768



Internal ID10300404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9225072..9225468hg38UCSC Ensembl
Outerchr18:9225070..9225466hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828451, essv6941179, essv6868089, essv6967049, essv6852403, essv6925091, essv6820560, essv6882865, essv6721445, essv6839396, essv6674387, essv6895331, essv6872387, essv6960585, essv6880033, essv6909572, essv6766487, essv6863278, essv6788564, essv6858372
SamplesSSM083, SSM027, SSM011, SSM087, SSM093, SSM088, SSM018, SSM069, SSM026, SSM089, SSM094, SSM031, SSM044, SSM001, SSM014, SSM086, SSM078, SSM080, SSM022, SSM098
Known GenesANKRD12
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)esv2716768
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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