A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627314



Internal ID6667462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94177630..94178176hg38UCSC Ensembl
Innerchr11:94177630..94178176hg38UCSC Ensembl
Outerchr11:94177370..94178431hg38UCSC Ensembl
chr11:93910796..93911342hg19UCSC Ensembl
Innerchr11:93910796..93911342hg19UCSC Ensembl
Outerchr11:93910536..93911597hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14241795, essv14241797, essv14241798, essv14241792, essv14241811, essv14241805, essv14241801, essv14241794, essv14241802, essv14241800, essv14241809, essv14241804, essv14241810, essv14241793, essv14241807, essv14241806, essv14241812, essv14241808, essv14241803, essv14241799, essv14241796
SamplesNA12249, HG00127, NA20510, HG00731, NA20796, NA20531, HG02601, NA12815, HG00117, NA20763, NA20521, NA12763, NA20754, HG03520, NA20536, HG00263, NA20821, HG01512, HG00281, NA12045, HG00136
Known GenesPANX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627314
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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