A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728632



Internal ID10312268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:160391001..160391207hg38UCSC Ensembl
Outerchr4:161312153..161312359hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934282, essv6963055
SamplesSSM027, SSM021
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)esv2728632
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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