A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10196817



Internal ID198633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179210792..179217563hg38UCSC Ensembl
Innerchr1:179210842..179217513hg38UCSC Ensembl
Outerchr1:179210730..179217625hg38UCSC Ensembl
chr1:179179927..179186698hg19UCSC Ensembl
Innerchr1:179179977..179186648hg19UCSC Ensembl
Outerchr1:179179865..179186760hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386772
hg196772
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588047
Supporting Variants
SamplesNA18563
Known GenesABL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10196817
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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