A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10285427



Internal ID287243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211709170..211744936hg38UCSC Ensembl
Innerchr1:211709320..211744786hg38UCSC Ensembl
Outerchr1:211709020..211745086hg38UCSC Ensembl
chr1:211882512..211918278hg19UCSC Ensembl
Innerchr1:211882662..211918128hg19UCSC Ensembl
Outerchr1:211882362..211918428hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3835767
hg1935767
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588735
Supporting Variants
SamplesHG00537
Known GenesLPGAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10285427
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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