A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720133



Internal ID10303769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:62675900..62676364hg38UCSC Ensembl
Outerchr2:62903035..62903499hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6910387, essv6813442, essv6938008
SamplesSSM015, SSM077, SSM022
Known GenesEHBP1
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)esv2720133
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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