A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733506



Internal ID9967830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:14939255..15021366hg38UCSC Ensembl
Outerchr10:14981254..15063365hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3882112
hg1982112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876411, essv6677486, essv6887746, essv6850646, essv6923980, essv6731776, essv6923979, essv6811967, essv6799868, essv6716441, essv6724171, essv6809123, essv6702085, essv6870478, essv6890972, essv6908515, essv6720359, essv6897393, essv6775403, essv6791501
SamplesSSM075, SSM045, SSM097, SSM039, SSM092, SSM090, SSM047, SSM018, SSM096, SSM032, SSM044, SSM014, SSM086, SSM066, SSM072, SSM076, SSM070, SSM099, SSM043
Known GenesDCLRE1C, MEIG1
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)esv2733506
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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