A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625559



Internal ID6665707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:20748768..20749177hg38UCSC Ensembl
Innerchr11:20748769..20749176hg38UCSC Ensembl
Outerchr11:20748767..20749178hg38UCSC Ensembl
chr11:20770314..20770723hg19UCSC Ensembl
Innerchr11:20770315..20770722hg19UCSC Ensembl
Outerchr11:20770313..20770724hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14047363, essv14047333, essv14047344, essv14047341, essv14047345, essv14047339, essv14047320, essv14047328, essv14047349, essv14047322, essv14047324, essv14047355, essv14047330, essv14047354, essv14047357, essv14047331, essv14047362, essv14047351, essv14047334, essv14047342, essv14047325, essv14047348, essv14047332, essv14047321, essv14047347, essv14047335, essv14047343, essv14047356, essv14047350, essv14047329, essv14047352, essv14047326, essv14047319, essv14047327, essv14047360, essv14047340, essv14047353, essv14047346, essv14047361, essv14047358, essv14047336, essv14047323, essv14047337, essv14047318, essv14047359, essv14047338
SamplesNA19394, NA19028, NA19700, NA19703, NA19397, NA18861, NA19399, HG02702, HG03111, HG02836, NA18877, NA18486, NA19393, NA19314, HG03436, HG03091, HG03342, NA20278, NA20412, NA19901, NA19456, HG03343, NA19247, NA18934, NA19184, NA19236, NA18871, NA19449, HG03078, HG02666, NA18858, HG02675, NA19436, NA19035, HG03117, NA19428, HG02839, NA19475, NA19328, HG02974, HG03025, HG02646, NA19093, NA19102, NA19030, HG02805
Known GenesNELL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625559
Frequency
Sample Size2504
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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