A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750410



Internal ID9811223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43140627..43240074hg38UCSC Ensembl
Outerchr19:43644779..43744226hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3899448
hg1999448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718603, esv2718594, esv2718599, esv2718604
Supporting Variants
SamplesSSM056
Known GenesLOC284344, PSG4, PSG5
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)essv6750410
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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