A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738719



Internal ID10322355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:88540437..88540958hg38UCSC Ensembl
Outerchr9:91155352..91155873hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695051, essv6970276, essv6931327, essv6681164, essv6768158, essv6827245, essv6935606
SamplesSSM064, SSM028, SSM021, SSM033, SSM020, SSM080, SSM037
Known GenesNXNL2
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)esv2738719
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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