A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6693729



Internal ID10108496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:113901750..113902096hg38UCSC Ensembl
Outerchr4:114822906..114823252hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728163
Supporting Variants
SamplesSSM037
Known GenesARSJ
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)essv6693729
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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