A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10145163



Internal ID146979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150570989..150572221hg38UCSC Ensembl
Innerchr1:150571013..150572198hg38UCSC Ensembl
Outerchr1:150570966..150572245hg38UCSC Ensembl
chr1:150543465..150544697hg19UCSC Ensembl
Innerchr1:150543489..150544674hg19UCSC Ensembl
Outerchr1:150543442..150544721hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381233
hg191233
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587506
Supporting Variants
SamplesHG02574
Known GenesADAMTSL4-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10145163
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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