A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740251



Internal ID10323887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:102885391..102885893hg38UCSC Ensembl
Outerchr10:104645148..104645650hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765616, essv6927703, essv6833031, essv6935842, essv6731848, essv6919880, essv6755339, essv6705265, essv6884907, essv6709475, essv6724229, essv6746627, essv6702178, essv6681336, essv6958804, essv6737696, essv6965342, essv6842180, essv6904665, essv6740833, essv6936773, essv6803665, essv6716514, essv6879305, essv6735013, essv6769464, essv6896854, essv6838361, essv6976659, essv6749479, essv6897454, essv6752380, essv6760763, essv6705974
SamplesSSM008, SSM083, SSM027, SSM045, SSM039, SSM013, SSM009, SSM093, SSM050, SSM057, SSM058, SSM084, SSM021, SSM047, SSM061, SSM029, SSM026, SSM017, SSM019, SSM003, SSM001, SSM033, SSM006, SSM040, SSM010, SSM055, SSM095, SSM099, SSM043, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesAS3MT, C10orf32-ASMT
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)esv2740251
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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