A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609070



Internal ID6995993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55548797..55553113hg38UCSC Ensembl
Innerchr6:55548818..55553092hg38UCSC Ensembl
Outerchr6:55548776..55553134hg38UCSC Ensembl
chr6:55413595..55417911hg19UCSC Ensembl
Innerchr6:55413616..55417890hg19UCSC Ensembl
Outerchr6:55413574..55417932hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg384317
hg194317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12363348, essv12363343, essv12363337, essv12363330, essv12363339, essv12363338, essv12363345, essv12363326, essv12363331, essv12363350, essv12363353, essv12363352, essv12363346, essv12363336, essv12363327, essv12363324, essv12363333, essv12363325, essv12363321, essv12363334, essv12363344, essv12363320, essv12363332, essv12363340, essv12363351, essv12363335, essv12363328, essv12363329, essv12363347, essv12363323, essv12363322, essv12363342, essv12363341, essv12363349
SamplesHG02628, NA18861, NA20298, HG03295, HG03091, HG02620, NA19131, HG03342, NA20291, HG03079, HG03268, HG03045, HG03394, HG02943, HG02442, HG03511, HG02537, HG01049, NA18907, HG01390, NA20299, HG03136, HG02884, HG02568, HG02557, NA19147, HG03437, HG01357, HG03259, HG02464, HG03108, NA19818, NA19213, NA19316
Known GenesHMGCLL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609070
Frequency
Sample Size2504
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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