A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718350



Internal ID10301986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154755767..154756449hg38UCSC Ensembl
Outerchr1:154728243..154728925hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898698, essv6761920, essv6917546, essv6972555, essv6807466, essv6937786, essv6769634, essv6954923, essv6813257, essv6964594, essv6777037, essv6917629, essv6950666, essv6840072, essv6836285, essv6889104
SamplesSSM100, SSM083, SSM075, SSM065, SSM097, SSM084, SSM029, SSM062, SSM026, SSM017, SSM003, SSM067, SSM001, SSM077, SSM022, SSM025
Known GenesKCNN3
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)esv2718350
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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