A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717729



Internal ID10301365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150065656..150066107hg38UCSC Ensembl
Outerchr1:150037656..150038163hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38452
hg19508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853405, essv6807463, essv6961722, essv6769627, essv6954911, essv6972543, essv6917573, essv6697059, essv6968042, essv6714346, essv6682921, essv6937779, essv6718252
SamplesSSM027, SSM075, SSM065, SSM087, SSM038, SSM028, SSM029, SSM026, SSM003, SSM044, SSM022, SSM034, SSM043
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)esv2717729
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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