A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950227



Internal ID9707417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52813427..52816736hg38UCSC Ensembl
Outerchr19:53316680..53319989hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg383310
hg193310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718798, esv2718787, esv2718800, esv2718801, esv2718786, esv2718796, esv2718799
Supporting Variants
SamplesSSM024
Known GenesZNF28
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)essv6950227
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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