A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6943698



Internal ID10052271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:30570143..30570298hg38UCSC Ensembl
Outerchr7:30609759..30609914hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734198, esv2734197
Supporting Variants
SamplesSSM023
Known GenesLOC401320
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)essv6943698
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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