A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715011



Internal ID9949296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88500853..88501653hg38UCSC Ensembl
Outerchr16:88567261..88568061hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920837, essv6901867, essv6788391, essv6824228, essv6772682, essv6735562, essv6768961, essv6688781, essv6905480, essv6891777, essv6796658, essv6728888, essv6828315, essv6721293, essv6936828
SamplesSSM065, SSM013, SSM064, SSM035, SSM071, SSM097, SSM012, SSM017, SSM069, SSM021, SSM046, SSM079, SSM044, SSM049, SSM080
Known GenesZFPM1
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)esv2715011
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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