A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588052



Internal ID6628352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179432988..179435975hg38UCSC Ensembl
Innerchr1:179433013..179435951hg38UCSC Ensembl
Outerchr1:179432964..179436000hg38UCSC Ensembl
chr1:179402123..179405110hg19UCSC Ensembl
Innerchr1:179402148..179405086hg19UCSC Ensembl
Outerchr1:179402099..179405135hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382988
hg192988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10197254
SamplesHG02427
Known GenesAXDND1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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