A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720423



Internal ID9954719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:97551822..97555535hg38UCSC Ensembl
Outerchr2:98168285..98171998hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383714
hg193714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739119, essv6898879, essv6736244
SamplesSSM100, SSM050, SSM052
Known GenesANKRD36B
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)esv2720423
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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