A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901561



Internal ID9665480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24607644..24632445hg38UCSC Ensembl
Outerchr14:25076850..25101651hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3824802
hg1924802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748495
Supporting Variants
SamplesSSM012
Known GenesGZMB, GZMH
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)essv6901561
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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