A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721669



Internal ID9955966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233744682..233756145hg38UCSC Ensembl
Outerchr2:234653328..234664791hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811464
hg1911464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689691
SamplesSSM036
Known GenesLOC100286922, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
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)esv2721669
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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