A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816930



Internal ID9875440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45414765..45415559hg38UCSC Ensembl
Outerchr2:45641904..45642698hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38795
hg19795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720008
Supporting Variants
SamplesSSM078
Known GenesSRBD1
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)essv6816930
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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