A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719637



Internal ID10303273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10233194..10234214hg38UCSC Ensembl
Outerchr2:10373320..10374340hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381021
hg191021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742355, essv6750802, essv6773699, essv6704093, essv6786954, essv6972831, essv6781162, essv6793591, essv6816899, essv6840246, essv6745137, essv6736188
SamplesSSM071, SSM009, SSM050, SSM057, SSM084, SSM029, SSM066, SSM068, SSM040, SSM078, SSM053, SSM055
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)esv2719637
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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