A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732607



Internal ID10316243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:116429612..116429970hg38UCSC Ensembl
Outerchr6:116750775..116751133hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872835, essv6687319, essv6860962, essv6723305, essv6865684, essv6907661, essv6855843, essv6798950, essv6826485, essv6786478, essv6676656, essv6930522, essv6963855, essv6818333, essv6855349, essv6943523, essv6822518, essv6887077, essv6957142, essv6782294, essv6939105
SamplesSSM027, SSM045, SSM011, SSM079, SSM087, SSM088, SSM023, SSM069, SSM096, SSM026, SSM089, SSM035, SSM032, SSM014, SSM068, SSM072, SSM020, SSM078, SSM080, SSM022, SSM091
Known GenesDSE
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)esv2732607
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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