A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735411



Internal ID3285907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:151714272..151714591hg38UCSC Ensembl
Outerchr7:151411358..151411677hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849750, essv6939424
SamplesSSM022, SSM086
Known GenesPRKAG2
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)esv2735411
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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