A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625127



Internal ID6665278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2536619..2537705hg38UCSC Ensembl
Innerchr11:2536743..2537570hg38UCSC Ensembl
Outerchr11:2536463..2537861hg38UCSC Ensembl
chr11:2557849..2558935hg19UCSC Ensembl
Innerchr11:2557973..2558800hg19UCSC Ensembl
Outerchr11:2557693..2559091hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13993619, essv13993615, essv13993623, essv13993613, essv13993616, essv13993611, essv13993610, essv13993618, essv13993622, essv13993620, essv13993612, essv13993608, essv13993607, essv13993621, essv13993605, essv13993617, essv13993606, essv13993609, essv13993614, essv13993624
SamplesNA18924, HG03175, HG03280, NA19314, NA19315, HG02810, NA19448, NA19131, NA19172, HG03048, HG03563, HG01241, HG02586, HG02759, HG02721, HG03259, HG03157, HG03049, NA18505, HG02808
Known GenesKCNQ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625127
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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