A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731752



Internal ID9966070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28382511..28383214hg38UCSC Ensembl
Outerchr6:28350288..28350991hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739924, essv6743086, essv6918675, essv6860740, essv6757349, essv6879153, essv6963624, essv6778113, essv6934637, essv6708350, essv6818143, essv6736912, essv6690357, essv6711767, essv6745896
SamplesSSM059, SSM036, SSM027, SSM050, SSM042, SSM088, SSM002, SSM041, SSM021, SSM017, SSM067, SSM078, SSM053, SSM055, SSM052
Known GenesZSCAN12
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)esv2731752
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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