A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6893758



Internal ID9941178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56246406..56246693hg38UCSC Ensembl
Outerchr7:56314099..56314386hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734448, esv2734460, esv2734447
Supporting Variants
SamplesSSM098
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)essv6893758
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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