A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730791



Internal ID9965108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132680181..132681189hg38UCSC Ensembl
Outerchr5:132015873..132016881hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6751452, essv6739827, essv6778020, essv6754375, essv6759883, essv6875552, essv6918582, essv6963445, essv6848861, essv6793465, essv6974490, essv6956726, essv6844769, essv6886686, essv6745812, essv6911153, essv6824665, essv6758909, essv6770627, essv6830026, essv6934526
SamplesSSM008, SSM027, SSM065, SSM009, SSM057, SSM058, SSM092, SSM021, SSM061, SSM029, SSM026, SSM017, SSM067, SSM086, SSM085, SSM081, SSM015, SSM010, SSM055, SSM052, SSM012
Known GenesIL4
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)esv2730791
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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