A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6942143



Internal ID10050647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:38844355..38844663hg38UCSC Ensembl
Outerchr2:39071497..39071805hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719952
Supporting Variants
SamplesSSM023
Known GenesDHX57
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)essv6942143
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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