A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10193452



Internal ID195268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178323830..178329518hg38UCSC Ensembl
Innerchr1:178323830..178329518hg38UCSC Ensembl
Outerchr1:178323670..178329650hg38UCSC Ensembl
chr1:178292965..178298653hg19UCSC Ensembl
Innerchr1:178292965..178298653hg19UCSC Ensembl
Outerchr1:178292805..178298785hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385689
hg195689
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588031
Supporting Variants
SamplesHG01105
Known GenesRASAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10193452
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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