A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732264



Internal ID10315900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:71381973..71382222hg38UCSC Ensembl
Outerchr6:72091676..72091925hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849191, essv6974848, essv6715575, essv6798903, essv6890262, essv6860915, essv6814363, essv6684024, essv6926854, essv6855565, essv6963792, essv6826446, essv6855292, essv6782255, essv6701122, essv6865636, essv6830212, essv6711882, essv6822480, essv6881454, essv6679088, essv6907613, essv6727156
SamplesSSM027, SSM046, SSM011, SSM079, SSM087, SSM097, SSM039, SSM042, SSM088, SSM029, SSM089, SSM019, SSM094, SSM014, SSM086, SSM068, SSM081, SSM072, SSM005, SSM080, SSM077, SSM034, SSM043
Known Genes
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)esv2732264
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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