A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954325



Internal ID9712005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11211347..11211843hg38UCSC Ensembl
Outerchr19:11322023..11322519hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718176
Supporting Variants
SamplesSSM025
Known GenesDOCK6
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)essv6954325
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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