A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720735



Internal ID10304371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127981183..127981752hg38UCSC Ensembl
Outerchr2:128738757..128739326hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714625, essv6675569, essv6789569, essv6840356
SamplesSSM084, SSM032, SSM070, SSM043
Known GenesSAP130
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)esv2720735
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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