A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697648



Internal ID10112112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:149239906..149240238hg38UCSC Ensembl
Outerchr4:150161058..150161390hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728521
Supporting Variants
SamplesSSM038
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)essv6697648
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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