A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733636



Internal ID10317272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:599742..600058hg38UCSC Ensembl
Outerchr7:639379..639695hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6930218, essv6957321, essv6896883, essv6734471, essv6811449, essv6911522, essv6782394, essv6814492, essv6687401, essv6849397
SamplesSSM026, SSM035, SSM003, SSM086, SSM068, SSM015, SSM077, SSM076, SSM099, SSM049
Known GenesPRKAR1B
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)esv2733636
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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