A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739818



Internal ID9974159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:97141459..97141941hg38UCSC Ensembl
Outerchr10:98901216..98901698hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6931541, essv6912316, essv6827423, essv6775458, essv6908594, essv6970500, essv6831048, essv6919875, essv6791566, essv6702167, essv6882127, essv6958798, essv6724220, essv6783284
SamplesSSM020, SSM039, SSM045, SSM094, SSM017, SSM066, SSM028, SSM068, SSM015, SSM026, SSM014, SSM081, SSM070, SSM080
Known GenesSLIT1
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)esv2739818
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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