A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724356



Internal ID10307992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44619358..44619842hg38UCSC Ensembl
Outerchr22:45015238..45015722hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv738e201
Supporting Variantsessv6917252, essv6852972, essv6933104
SamplesSSM086, SSM020, SSM016
Known GenesLINC00229
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)esv2724356
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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