A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685917



Internal ID9753088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:23138023..23138301hg38UCSC Ensembl
Outerchr19:23320825..23321103hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718337, esv2718367
Supporting Variants
SamplesSSM034
Known GenesZNF730
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)essv6685917
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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