A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6797665



Internal ID10005461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:45432591..45432758hg38UCSC Ensembl
Outerchr7:45472190..45472357hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734333
Supporting Variants
SamplesSSM009
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)essv6797665
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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