A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901974



Internal ID9639388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38258161..38277919hg38UCSC Ensembl
Outerchr7:38297762..38317520hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3819759
hg1919759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734277, esv2734278
Supporting Variants
SamplesSSM002
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)essv6901974
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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