A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6707049



Internal ID9773139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42945035..43090439hg38UCSC Ensembl
Outerchr19:43449187..43594591hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38145405
hg19145405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718594, esv2718602, esv2718601, esv2718599
Supporting Variants
SamplesSSM040
Known GenesPSG11, PSG2
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)essv6707049
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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