A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734712



Internal ID10318348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:78505409..78506806hg38UCSC Ensembl
Outerchr7:78134726..78136123hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381398
hg191398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790830, essv6975318, essv6822718, essv6930779, essv6771105, essv6774849, essv6799183, essv6943783, essv6740249, essv6841522, essv6723538, essv6671584, essv6939338
SamplesSSM045, SSM079, SSM065, SSM023, SSM084, SSM029, SSM031, SSM066, SSM072, SSM020, SSM022, SSM070, SSM052
Known GenesMAGI2
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)esv2734712
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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