A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6968780



Internal ID10076264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:38880056..38880184hg38UCSC Ensembl
Outerchr4:38881677..38881805hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727452
Supporting Variants
SamplesSSM028
Known GenesFAM114A1
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)essv6968780
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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