A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721560



Internal ID10305196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227608715..227617533hg38UCSC Ensembl
Outerchr2:228473431..228482249hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg388819
hg198819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6675661, essv6833014, essv6742499, essv6726301, essv6756857, essv6807748, essv6889417, essv6711028, essv6781372, essv6722321, essv6722437, essv6896166, essv6733794, essv6955548, essv6825497, essv6785500
SamplesSSM059, SSM075, SSM045, SSM046, SSM097, SSM042, SSM069, SSM026, SSM032, SSM068, SSM082, SSM007, SSM053, SSM080, SSM099, SSM049
Known GenesC2orf83
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)esv2721560
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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