A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585086



Internal ID6972610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5112354..5113415hg38UCSC Ensembl
Innerchr1:5112761..5113365hg38UCSC Ensembl
Outerchr1:5112304..5113465hg38UCSC Ensembl
chr1:5172414..5173475hg19UCSC Ensembl
Innerchr1:5172821..5173425hg19UCSC Ensembl
Outerchr1:5172364..5173525hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9845227, essv9845243, essv9845241, essv9845232, essv9845229, essv9845235, essv9845230, essv9845239, essv9845233, essv9845234, essv9845242, essv9845231, essv9845236, essv9845237, essv9845228, essv9845226, essv9845238, essv9845240
SamplesHG01850, HG02035, NA18639, NA18625, HG02384, HG00654, NA18618, NA18975, HG00596, HG00533, HG02408, HG00611, HG01597, HG02379, HG02373, HG00698, HG01794, NA18997
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585086
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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