A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741893



Internal ID9804400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21567950..23250017hg38UCSC Ensembl
Outerchr19:21750752..23432819hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg381682068
hg191682068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718337
Supporting Variants
SamplesSSM052
Known GenesLOC100996349, LOC440518, LOC641367, ZNF100, ZNF208, ZNF257, ZNF43, ZNF492, ZNF676, ZNF724P, ZNF728, ZNF729, ZNF730, ZNF98, ZNF99
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)essv6741893
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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