A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6769303



Internal ID9826778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52813372..52816633hg38UCSC Ensembl
Outerchr19:53316625..53319886hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg383262
hg193262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718798, esv2718787, esv2718796, esv2718800, esv2718801, esv2718786, esv2718799
Supporting Variants
SamplesSSM064
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)essv6769303
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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