A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724816



Internal ID10308452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:3800019..3801007hg38UCSC Ensembl
Outerchr3:3841703..3842691hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38989
hg19989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973322, essv6770047, essv6847831, essv6667145, essv6864595, essv6745304, essv6750983, essv6788766, essv6736367, essv6933846, essv6683256, essv6742522, essv6889453, essv6759425, essv6698833, essv6739274, essv6753900, essv6748152, essv6875094, essv6854016
SamplesSSM065, SSM087, SSM097, SSM009, SSM050, SSM057, SSM058, SSM092, SSM021, SSM061, SSM029, SSM089, SSM086, SSM006, SSM053, SSM055, SSM034, SSM052, SSM056, SSM030
Known GenesLRRN1
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)esv2724816
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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