A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731929



Internal ID3282425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6209837..6210932hg38UCSC Ensembl
Outerchr10:6251800..6252895hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381096
hg191096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765556, essv6876398, essv6923956, essv6927630, essv6768765, essv6765557, essv6716424, essv6919796, essv6757981, essv6749414, essv6976479, essv6779115, essv6760704, essv6787396, essv6970409, essv6834584, essv6743766, essv6799858, essv6976480, essv6856637
SamplesSSM092, SSM053, SSM082, SSM061, SSM043, SSM072, SSM067, SSM056, SSM017, SSM028, SSM029, SSM069, SSM063, SSM087, SSM019, SSM008, SSM018, SSM059
Known GenesPFKFB3
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)esv2731929
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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