A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696769



Internal ID9763163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56201047..56239160hg38UCSC Ensembl
Outerchr19:56712416..56750529hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3838114
hg1938114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719027
Supporting Variants
SamplesSSM037
Known GenesZSCAN5A
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)essv6696769
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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