A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731754



Internal ID10315390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28802624..28817161hg38UCSC Ensembl
Outerchr6:28770401..28784938hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3814538
hg1914538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6893440, essv6890148, essv6690358, essv6826316, essv6715435, essv6854898, essv6918676, essv6774550, essv6907468, essv6778114, essv6708351, essv6869622, essv6959906
SamplesSSM036, SSM011, SSM097, SSM041, SSM090, SSM017, SSM067, SSM014, SSM066, SSM080, SSM004, SSM043, SSM098
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)esv2731754
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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