A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10197415



Internal ID199231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179486458..179489168hg38UCSC Ensembl
Innerchr1:179486459..179489168hg38UCSC Ensembl
Outerchr1:179486458..179489169hg38UCSC Ensembl
chr1:179455593..179458303hg19UCSC Ensembl
Innerchr1:179455594..179458303hg19UCSC Ensembl
Outerchr1:179455593..179458304hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382711
hg192711
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588053
Supporting Variants
SamplesHG03121
Known GenesAXDND1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10197415
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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