A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10053232



Internal ID55048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108824350..108829378hg38UCSC Ensembl
Innerchr1:108824350..108829378hg38UCSC Ensembl
Outerchr1:108823971..108829721hg38UCSC Ensembl
chr1:109366972..109372000hg19UCSC Ensembl
Innerchr1:109366972..109372000hg19UCSC Ensembl
Outerchr1:109366593..109372343hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385029
hg195029
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587138
Supporting Variants
SamplesHG02154
Known GenesAKNAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10053232
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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