A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729379



Internal ID10313015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1022168..1025746hg38UCSC Ensembl
Outerchr5:1022283..1025861hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383579
hg193579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934380, essv6947520, essv6781917, essv6893222, essv6930164, essv6786095, essv6693863, essv6886772, essv6837162, essv6715226, essv6903458, essv6833523, essv6963205, essv6719123, essv6938696, essv6926543, essv6777880, essv6704739, essv6708152, essv6911023, essv6918454, essv6943027, essv6914839, essv6969047, essv6730604, essv6711573, essv6840956
SamplesSSM083, SSM027, SSM024, SSM013, SSM042, SSM041, SSM023, SSM028, SSM084, SSM021, SSM047, SSM069, SSM096, SSM017, SSM019, SSM067, SSM044, SSM068, SSM040, SSM082, SSM020, SSM015, SSM016, SSM037, SSM022, SSM043, SSM098
Known GenesNKD2
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)esv2729379
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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