A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849690



Internal ID9901517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:130349672..130349773hg38UCSC Ensembl
Outerchr7:129989513..129989614hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735153
Supporting Variants
SamplesSSM086
Known GenesCPA5
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)essv6849690
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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