A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721559



Internal ID9955855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227365965..227370136hg38UCSC Ensembl
Outerchr2:228230681..228234852hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg384172
hg194172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759397, essv6686544, essv6752675, essv6733793, essv6752686
SamplesSSM008, SSM061, SSM035, SSM049
Known GenesTM4SF20
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)esv2721559
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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