A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719636



Internal ID10303272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10200447..10200634hg38UCSC Ensembl
Outerchr2:10340573..10340760hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864284, essv6972830, essv6718427, essv6961981, essv6859495, essv6816897, essv6810530, essv6846176, essv6955202, essv6853636
SamplesSSM027, SSM011, SSM087, SSM088, SSM029, SSM026, SSM089, SSM044, SSM078, SSM076
Known GenesC2orf48
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)esv2719636
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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