A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954383



Internal ID10058743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41894523..41895144hg38UCSC Ensembl
Outerchr19:42398596..42399217hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38622
hg19622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718581
Supporting Variants
SamplesSSM025
Known GenesARHGEF1
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)essv6954383
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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