A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824638



Internal ID9878970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:20544837..20545301hg38UCSC Ensembl
Outerchr19:20727643..20728107hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718314, esv2718315, esv2718302, esv2718311
Supporting Variants
SamplesSSM079
Known GenesZNF737
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)essv6824638
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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