A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735428



Internal ID10319064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:35742650..35743401hg38UCSC Ensembl
Outerchr10:36031578..36032329hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg38752
hg19752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737658, essv6752335, essv6701154, essv6760722, essv6668049, essv6743786, essv6832632
SamplesSSM050, SSM057, SSM061, SSM001, SSM053, SSM010, 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)esv2735428
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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