A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689090



Internal ID9755457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52857981..52943014hg38UCSC Ensembl
Outerchr19:53361234..53446267hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3885034
hg1985034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718787, esv2718804, esv2718796, esv2718799
Supporting Variants
SamplesSSM035
Known GenesZNF320, ZNF321P, ZNF816-ZNF321P
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)essv6689090
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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