A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734116



Internal ID10317752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:22029053..22029361hg38UCSC Ensembl
Outerchr7:22068671..22068979hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952134, essv6901830, essv6875906, essv6907783, essv6680601, essv6818479, essv6855551
SamplesSSM087, SSM002, SSM092, SSM014, SSM033, SSM078, SSM025
Known Genes
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)esv2734116
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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