A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6754686



Internal ID10164037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:599500..600255hg38UCSC Ensembl
Outerchr7:639137..639892hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38756
hg19756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733635
Supporting Variants
SamplesSSM058
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)essv6754686
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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