A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731603



Internal ID3282099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13231238..13231687hg38UCSC Ensembl
Outerchr6:13231470..13231919hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947711, essv6727040, essv6700968, essv6890129, essv6974648, essv6822374, essv6704907, essv6893423, essv6963599, essv6671003, essv6739902, essv6814238, essv6719323, essv6778094, essv6869604, essv6683928, essv6865490, essv6830100, essv6818111, essv6943270, essv6837341, essv6826296, essv6676460, essv6782097, essv6786297, essv6694072, essv6811224, essv6878539, essv6907449, essv6794568, essv6860722, essv6711751, essv6690339, essv6697856, essv6886946, essv6805335, essv6956871, essv6848999, essv6808314, essv6790419, essv6855114, essv6757328
SamplesSSM027, SSM086, SSM036, SSM042, SSM040, SSM078, SSM088, SSM089, SSM090, SSM031, SSM071, SSM032, SSM039, SSM024, SSM067, SSM083, SSM097, SSM077, SSM093, SSM029, SSM069, SSM037, SSM034, SSM087, SSM038, SSM046, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM075, SSM026, SSM014, SSM098, SSM076, SSM059, SSM081, SSM070, SSM080
Known GenesPHACTR1
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)esv2731603
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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