A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734744



Internal ID9969074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:81729033..81729285hg38UCSC Ensembl
Outerchr7:81358349..81358601hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1101e201
Supporting Variantsessv6865952, essv6907888, essv6855682, essv6671591, essv6881650, essv6818580, essv6964221
SamplesSSM027, SSM087, SSM089, SSM094, SSM031, SSM014, SSM078
Known GenesHGF
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)esv2734744
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer