A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746774



Internal ID10327744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35640222..35641095hg38UCSC Ensembl
Outerchr1:36105823..36106696hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38874
hg19874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748665, essv6764177, essv6902559, essv6747803, essv6679192
SamplesSSM008, SSM013, SSM033, SSM056, SSM063
Known GenesPSMB2
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)esv2746774
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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