A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735339



Internal ID9969669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:35150630..35151071hg38UCSC Ensembl
Outerchr10:35439558..35439999hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv96e201
Supporting Variantsessv6850671, essv6935773, essv6783216, essv6779144, essv6791519
SamplesSSM021, SSM067, SSM086, SSM068, SSM070
Known GenesCREM
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)esv2735339
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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