A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722695



Internal ID9956995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:215021251..215021444hg38UCSC Ensembl
Outerchr1:215194594..215194787hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6902697, essv6825150, essv6729782, essv6951695, essv6669219, essv6682968
SamplesSSM013, SSM031, SSM047, SSM034, SSM004, SSM080
Known GenesKCNK2
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)esv2722695
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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