A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741339



Internal ID10295455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:117126570..117126874hg38UCSC Ensembl
Outerchr10:118886081..118886385hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv107e201
Supporting Variantsessv6850777, essv6672746, essv6856796, essv6866816, essv6873496, essv6936907
SamplesSSM087, SSM089, SSM003, SSM031, SSM086, SSM091
Known GenesKIAA1598
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)esv2741339
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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