A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736072



Internal ID10319708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44866086..44866784hg38UCSC Ensembl
Outerchr10:45361534..45362232hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38699
hg19699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6931499, essv6672644, essv6842139, essv6740792, essv6970452, essv6896298, essv6737660, essv6819312, essv6731794, essv6856697, essv6968718, essv6752336, essv6919828, essv6749444, essv6769031, essv6695208, essv6681291, essv6939994, essv6915856, essv6755286, essv6924001, essv6906451, essv6894383, essv6705926, essv6779147, essv6771763, essv6850680
SamplesSSM008, SSM065, SSM087, SSM050, SSM002, SSM057, SSM058, SSM028, SSM084, SSM047, SSM018, SSM017, SSM031, SSM067, SSM086, SSM033, SSM040, SSM020, SSM078, SSM016, SSM037, SSM022, SSM004, SSM052, SSM098, SSM056, SSM012
Known GenesTMEM72-AS1
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)esv2736072
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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