A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6821371



Internal ID10222716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236038745..236038961hg38UCSC Ensembl
Outerchr1:236202045..236202261hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725363
Supporting Variants
SamplesSSM079
Known GenesNID1
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)essv6821371
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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