A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728853



Internal ID10312489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182970708..182971502hg38UCSC Ensembl
Outerchr4:183891861..183892655hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38795
hg19795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918391, essv6686944, essv6719064, essv6854677, essv6670553, essv6667366, essv6715164, essv6963098, essv6974126, essv6786033, essv6754237, essv6730539
SamplesSSM027, SSM087, SSM058, SSM047, SSM069, SSM029, SSM017, SSM035, SSM031, SSM044, SSM043, SSM030
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)esv2728853
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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