A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720416



Internal ID9954712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:97180468..97191901hg38UCSC Ensembl
Outerchr2:97846205..97857638hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3811434
hg1911434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787489, essv6742410, essv6751709, essv6736243, essv6667080, essv6756784, essv6822154, essv6933677, essv6756783, essv6733717, essv6739118
SamplesSSM059, SSM008, SSM009, SSM050, SSM002, SSM021, SSM053, SSM052, SSM049, SSM030
Known GenesANKRD36
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)esv2720416
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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