A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727607



Internal ID9961918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246864575..246864880hg38UCSC Ensembl
Outerchr1:247027877..247028182hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892516, essv6683012, essv6836386, essv6804590, essv6845732, essv6699839, essv6886146, essv6859444, essv6718366, essv6955091, essv6726059, essv6847359, essv6825205, essv6883415, essv6853555, essv6880584, essv6906324, essv6898784, essv6707452, essv6972736, essv6889205
SamplesSSM086, SSM088, SSM039, SSM094, SSM083, SSM097, SSM041, SSM100, SSM011, SSM029, SSM095, SSM034, SSM087, SSM046, SSM096, SSM044, SSM074, SSM026, SSM014, SSM098, SSM080
Known GenesAHCTF1
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)esv2727607
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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