A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721541



Internal ID9955837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:226152862..226153092hg38UCSC Ensembl
Outerchr2:227017578..227017808hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929580, essv6847764, essv6962309, essv6859756, essv6955547, essv6669731, essv6853949
SamplesSSM027, SSM086, SSM088, SSM031, SSM020, SSM087, SSM026
Known GenesLOC646736
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)esv2721541
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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