A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717784



Internal ID10301420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150367217..150367600hg38UCSC Ensembl
Outerchr1:150339693..150340076hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6789251, essv6929169, essv6954912, essv6669126, essv6847189, essv6937780, essv6692881, essv6910158
SamplesSSM026, SSM031, SSM086, SSM020, SSM015, SSM037, SSM022, SSM070
Known GenesRPRD2
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)esv2717784
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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