A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6973774



Internal ID10077760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:23098822..23100164hg38UCSC Ensembl
Outerchr4:23100445..23101787hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381343
hg191343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727292
Supporting Variants
SamplesSSM029
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)essv6973774
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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