A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11017513



Internal ID1428489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56158227..56169204hg38UCSC Ensembl
Innerchr3:56158242..56169189hg38UCSC Ensembl
Outerchr3:56158212..56169219hg38UCSC Ensembl
chr3:56192255..56203232hg19UCSC Ensembl
Innerchr3:56192270..56203217hg19UCSC Ensembl
Outerchr3:56192240..56203247hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3810978
hg1910978
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596207
Supporting Variants
SamplesHG01308
Known GenesERC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11017513
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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