A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734297



Internal ID3284793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:39340757..39340849hg38UCSC Ensembl
Outerchr7:39380356..39380448hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964134, essv6861152
SamplesSSM027, SSM088
Known GenesPOU6F2
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)esv2734297
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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