A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717231



Internal ID10300867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:65866011..65866375hg38UCSC Ensembl
Outerchr18:63533247..63533611hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882906, essv6703325, essv6888647, essv6891935, essv6721492, essv6945899, essv6901226, essv6806985, essv6949957, essv6967131, essv6895379, essv6796893, essv6960661, essv6880075, essv6685747, essv6674473, essv6696445, essv6909628, essv6809994, essv6688934, essv6852494, essv6666081, essv6710170, essv6872864, essv6863344, essv6801109, essv6868141, essv6820627, essv6832094, essv6678652, essv6858449
SamplesSSM100, SSM071, SSM027, SSM024, SSM075, SSM011, SSM087, SSM097, SSM039, SSM093, SSM074, SSM088, SSM041, SSM023, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM081, SSM072, SSM078, SSM037, SSM034, SSM098
Known GenesCDH7
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)esv2717231
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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