A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10995400



Internal ID1185772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45355243..45365889hg38UCSC Ensembl
Innerchr3:45355243..45365889hg38UCSC Ensembl
Outerchr3:45354743..45366389hg38UCSC Ensembl
chr3:45396735..45407381hg19UCSC Ensembl
Innerchr3:45396735..45407381hg19UCSC Ensembl
Outerchr3:45396235..45407881hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3810647
hg1910647
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596045
Supporting Variants
SamplesHG01063
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10995400
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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