A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731251



Internal ID9965568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3115104..3115651hg38UCSC Ensembl
Outerchr10:3157296..3157843hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv87e201
Supporting Variantsessv6705885, essv6727978, essv6768599, essv6884845, essv6866678, essv6691294, essv6895865, essv6677462, essv6887724, essv6724148, essv6809102, essv6803229, essv6681248, essv6906052, essv6827333
SamplesSSM036, SSM008, SSM075, SSM045, SSM046, SSM073, SSM002, SSM096, SSM089, SSM032, SSM033, SSM040, SSM080, SSM095, SSM012
Known GenesPFKP
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)esv2731251
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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