A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726905



Internal ID3277401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3522425..3522996hg38UCSC Ensembl
Outerchr4:3524152..3524723hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6910763, essv6968728, essv6825767, essv6836863, essv6755109, essv6789902, essv6697506, essv6962728, essv6934076, essv6889634, essv6683438, essv6693571, essv6951325, essv6810846, essv6722701, essv6956001, essv6770257, essv6798236, essv6794067, essv6938405, essv6926306, essv6929852, essv6730323
SamplesSSM065, SSM022, SSM027, SSM025, SSM072, SSM020, SSM071, SSM045, SSM083, SSM097, SSM028, SSM047, SSM021, SSM037, SSM034, SSM038, SSM019, SSM015, SSM026, SSM008, SSM076, SSM070, SSM080
Known GenesLRPAP1
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)esv2726905
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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