A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10092396



Internal ID5319604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120953581..120966122hg38UCSC Ensembl
Innerchr1:120953581..120966122hg38UCSC Ensembl
Outerchr1:120953081..120966623hg38UCSC Ensembl
chr1:144468090..144480623hg19UCSC Ensembl
Innerchr1:144468090..144480623hg19UCSC Ensembl
Outerchr1:144467590..144481123hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3812542
hg1912534
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587388
Supporting Variants
SamplesNA18865
Known GenesLOC100288142
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10092396
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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