A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746730



Internal ID10327700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35576897..35577074hg38UCSC Ensembl
Outerchr1:36042498..36042675hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961592, essv6847047, essv6914015
SamplesSSM027, SSM086, SSM016
Known GenesTFAP2E
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)esv2746730
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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