A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721934



Internal ID10305570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240498319..240498735hg38UCSC Ensembl
Outerchr2:241437736..241438152hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785540, essv6929617, essv6693328
SamplesSSM069, SSM020, SSM037
Known GenesANKMY1
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)esv2721934
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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