A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735154



Internal ID9969484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131529738..131530172hg38UCSC Ensembl
Outerchr7:131214497..131214931hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38435
hg19435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849691, essv6694578, essv6923406
SamplesSSM018, SSM086, SSM037
Known GenesPODXL
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)esv2735154
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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