A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734465



Internal ID10318101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56415494..56416027hg38UCSC Ensembl
Outerchr7:56483187..56483720hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38534
hg19534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762785, essv6715783, essv6927044, essv6680634, essv6731125
SamplesSSM047, SSM062, SSM019, SSM033, SSM043
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)esv2734465
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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