A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6693736



Internal ID10108469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:122789125..122789502hg38UCSC Ensembl
Outerchr4:123710280..123710657hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728264
Supporting Variants
SamplesSSM037
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)essv6693736
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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