A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734056



Internal ID10317692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:16627598..16628126hg38UCSC Ensembl
Outerchr7:16667223..16667751hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6899858, essv6751773, essv6797453, essv6841457, essv6757539, essv6760201, essv6948033, essv6802724
SamplesSSM100, SSM059, SSM024, SSM009, SSM073, SSM057, SSM084, SSM061
Known GenesANKMY2
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)esv2734056
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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