A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734748



Internal ID10318384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:82326559..82326897hg38UCSC Ensembl
Outerchr7:81955875..81956213hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6708689, essv6802793, essv6712133, essv6923364, essv6957526, essv6782511, essv6834071, essv6907891, essv6828176, essv6893813, essv6799189
SamplesSSM073, SSM042, SSM041, SSM018, SSM026, SSM014, SSM068, SSM072, SSM082, SSM010, SSM098
Known GenesCACNA2D1
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)esv2734748
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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