A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719586



Internal ID10303222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:6504729..6505138hg38UCSC Ensembl
Outerchr2:6644861..6645270hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6942099, essv6781158, essv6825263, essv6922002, essv6714514, essv6769803, essv6675462, essv6693073, essv6669382, essv6910331
SamplesSSM065, SSM023, SSM018, SSM032, SSM031, SSM068, SSM015, SSM080, SSM037, SSM043
Known Genes
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)esv2719586
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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