A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6937892



Internal ID9700195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248187734..248188749hg38UCSC Ensembl
Outerchr1:248351036..248352051hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381016
hg191016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728006, esv2728040, esv2728017
Supporting Variants
SamplesSSM022
Known Genes
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)essv6937892
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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