A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750338



Internal ID10331308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1397276..1397757hg38UCSC Ensembl
Outerchr16:1447277..1447758hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6685485, essv6681995, essv6900975, essv6916542, essv6702924, essv6796496, essv6741820, essv6842922, essv6812559, essv6913051, essv6732583, essv6960075
SamplesSSM100, SSM071, SSM039, SSM084, SSM047, SSM026, SSM033, SSM007, SSM015, SSM016, SSM076, SSM034
Known GenesUNKL
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)esv2750338
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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