A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741006



Internal ID10295122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:112392259..112392514hg38UCSC Ensembl
Outerchr10:114152017..114152272hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842189, essv6897460, essv6969263, essv6944633, essv6791579, essv6876462, essv6919888, essv6677569, essv6731860, essv6787501, essv6873491, essv6803304, essv6924072, essv6705984, essv6912331, essv6760771
SamplesSSM073, SSM023, SSM092, SSM084, SSM047, SSM018, SSM069, SSM061, SSM017, SSM032, SSM040, SSM015, SSM091, SSM070, SSM004, SSM099
Known GenesACSL5
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)esv2741006
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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