A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715929



Internal ID9950216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:108824381..108829334hg38UCSC Ensembl
Outerchr1:109367003..109371956hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg384954
hg194954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773523, essv6874776, essv6766609, essv6725935, essv6736048, essv6914064, essv6692861, essv6689327, essv6742206, essv6817364, essv6697045, essv6898680, essv6871777, essv6756611, essv6797535
SamplesSSM100, SSM059, SSM036, SSM046, SSM064, SSM038, SSM050, SSM092, SSM066, SSM072, SSM016, SSM053, SSM037, SSM010, SSM091
Known GenesAKNAD1
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)esv2715929
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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