A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872951



Internal ID9922453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38258388..38277868hg38UCSC Ensembl
Outerchr7:38297989..38317469hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3819481
hg1919481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734277, esv2734278
Supporting Variants
SamplesSSM091
Known GenesTARP
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)essv6872951
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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