A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732880



Internal ID10316516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150372134..150373321hg38UCSC Ensembl
Outerchr6:150693270..150694457hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381188
hg191188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6723337, essv6963904, essv6737045, essv6974976, essv6757484, essv6671280, essv6926908, essv6833877, essv6929673, essv6957189, essv6888844, essv6861003, essv6837541, essv6705141, essv6748839, essv6918945, essv6952013, essv6855392, essv6818379, essv6947909, essv6962250, essv6760132, essv6796565, essv6826524, essv6778303, essv6734440, essv6694272, essv6872862, essv6849302
SamplesSSM059, SSM083, SSM027, SSM024, SSM045, SSM087, SSM009, SSM050, SSM088, SSM061, SSM029, SSM026, SSM017, SSM019, SSM003, SSM031, SSM067, SSM086, SSM040, SSM082, SSM078, SSM080, SSM037, SSM091, SSM025, SSM004, SSM049, SSM056, SSM012
Known GenesIYD
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)esv2732880
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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